omim-id-name.tbl

DECIPHER:14	Prader-Willi Syndrome (Type 1)
DECIPHER:15	Nf1-Microdeletion Syndrome
DECIPHER:16	22q11 Deletion Syndrome (Velocardiofacial / Digeorge Syndrome)
DECIPHER:17	Sotos Syndrome
DECIPHER:18	1p36 Microdeletion Syndrome
DECIPHER:19	Potocki-Lupski Syndrome (17p11.2 Duplication Syndrome)
DECIPHER:1	Wolf-Hirschhorn Syndrome
DECIPHER:20	22q13 Deletion Syndrome (Phelan-Mcdermid Syndrome)
DECIPHER:21	Miller-Dieker Syndrome (Mds)
DECIPHER:29	Charcot-Marie-Tooth Syndrome Type 1a (Cmt1a)
DECIPHER:2	Cri Du Chat Syndrome (5p Deletion)
DECIPHER:31	Hereditary Liability To Pressure Palsies (Hnpp)
DECIPHER:32	22q11 Duplication Syndrome
DECIPHER:34	Potocki-Shaffer Syndrome
DECIPHER:35	Wagr 11p13 Deletion Syndrome
DECIPHER:37	3q29 Microdeletion Syndrome
DECIPHER:38	Pelizaeus-Merzbacher Disease
DECIPHER:39	8p23.1 Deletion Syndrome
DECIPHER:3	Williams-Beuren Syndrome (Wbs)
DECIPHER:42	Cat-Eye Syndrome (Type I)
DECIPHER:43	7q11.23 Duplication Syndrome
DECIPHER:44	2q37 Monosomy
DECIPHER:45	Xq28 (Mecp2) Duplication
DECIPHER:46	Split Hand/Foot Malformation 1 (Shfm1)
DECIPHER:47	Rcad (Renal Cysts And Diabetes)
DECIPHER:48	Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
DECIPHER:4	Angelman Syndrome (Type 1)
DECIPHER:51	2q33.1 Deletion Syndrome
DECIPHER:52	9q Subtelomeric Deletion Syndrome
DECIPHER:53	Prader-Willi Syndrome (Type 2)
DECIPHER:54	Angelman Syndrome (Type 2)
DECIPHER:57	17q21.31 Recurrent Microdeletion Syndrome
DECIPHER:58	Leri-Weill Dyschondrostosis (Lwd) - Shox Deletion
DECIPHER:59	Adult-Onset Autosomal Dominant Leukodystrophy (Adld)
DECIPHER:62	1q21.1 Recurrent Microdeletion (Susceptibility Locus For Neurodevelopmental Disorders)
DECIPHER:65	Atr-16 Syndrome
DECIPHER:66	15q24 Recurrent Microdeletion Syndrome
DECIPHER:67	1q21.1 Recurrent Microduplication (Possible Susceptibility Locus For Neurodevelopmental Disorders)
DECIPHER:68	16p11.2-P12.2 Microdeletion Syndrome
DECIPHER:70	2p15-16.1 Microdeletion Syndrome
DECIPHER:72	22q11.2 Distal Deletion Syndrome
DECIPHER:74	15q13.3 Microdeletion Syndrome
DECIPHER:76	12q14 Microdeletion Syndrome
DECIPHER:81	15q26 Overgrowth Syndrome
DECIPHER:85	8p23.1 Duplication Syndrome
DECIPHER:8	Smith-Magenis Syndrome
DECIPHER:92	Recurrent 16p12.1 Microdeletion (Neurodevelopmental Susceptibility Locus)
OMIM:100050	Aarskog Syndrome, Autosomal Dominant
OMIM:100070	Aortic Aneurysm, Familial Abdominal, 1
OMIM:100100	Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism
OMIM:100200	Abducens Palsy
OMIM:100300	Adams-Oliver Syndrome 1
OMIM:100600	Acanthosis Nigricans
OMIM:100640	Aldehyde Dehydrogenase 1 Family, Member A1
OMIM:100650	Aldehyde Dehydrogenase 2 Family
OMIM:100675	Acetaminophen Metabolism
OMIM:100700	Achard Syndrome
OMIM:100800	Achondroplasia
OMIM:100820	Achoo Syndrome
OMIM:101000	Neurofibromatosis, Type Ii
OMIM:101120	Acrocephalopolysyndactyly Type Iii
OMIM:101200	Apert Syndrome
OMIM:101400	Saethre-Chotzen Syndrome
OMIM:101600	Pfeiffer Syndrome
OMIM:101800	Acrodysostosis 1 With Or Without Hormone Resistance
OMIM:101805	Acrofacial Dysostosis, Catania Type
OMIM:101840	Acrokeratoderma, Hereditary Papulotranslucent
OMIM:101850	Palmoplantar Keratoderma, Punctate Type Iii
OMIM:101900	Acrokeratosis Verruciformis
OMIM:102000	Acroleukopathy, Symmetric
OMIM:102100	Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
OMIM:102150	Acromegaloid Facial Appearance Syndrome
OMIM:102200	Pituitary Adenoma, Growth Hormone-Secreting
OMIM:102300	Restless Legs Syndrome, Susceptibility To, 1
OMIM:102350	Acromial Dimples
OMIM:102370	Acromicric Dysplasia
OMIM:102400	Acroosteolysis
OMIM:102500	Hajdu-Cheney Syndrome
OMIM:102510	Acropectorovertebral Dysplasia
OMIM:102520	Acrorenal Syndrome
OMIM:102530	Spermatogenic Failure 6
OMIM:102650	Adactylia, Unilateral
OMIM:102660	Adamantinoma Of Long Bones
OMIM:102700	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
OMIM:102730	Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
OMIM:102770	Adenosine Monophosphate Deaminase 1
OMIM:102800	Adenosine Triphosphatase Deficiency, Anemia Due To
OMIM:102900	Adenosine Triphosphate, Elevated, Of Erythrocytes
OMIM:103050	Adenylosuccinase Deficiency
OMIM:103100	Adie Pupil
OMIM:103200	Adiposis Dolorosa
OMIM:103230	Adrenocortical Hypofunction, Chronic Primary Congenital
OMIM:103285	Adult Syndrome
OMIM:103300	Hypoglossia-Hypodactylia
OMIM:103400	Ainhum
OMIM:103420	Alacrima, Congenital
OMIM:103470	Albinism, Ocular, With Sensorineural Deafness
OMIM:103500	Tietz Syndrome
OMIM:103580	Pseudohypoparathyroidism, Type Ia
OMIM:103780	Alcohol Dependence
OMIM:103900	Glucocorticoid-Remediable Aldosteronism
OMIM:103920	Allergic Bronchopulmonary Aspergillosis, Familial
OMIM:104000	Alopecia Areata 1
OMIM:104100	Palmoplantar Keratoderma And Congenital Alopecia, Autosomal Dominant
OMIM:104110	Alopecia, Familial Focal
OMIM:104130	Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
OMIM:104150	Alpha-Fetoprotein
OMIM:104200	Alport Syndrome, Autosomal Dominant
OMIM:104290	Alternating Hemiplegia Of Childhood 1
OMIM:104300	Alzheimer Disease
OMIM:104310	Alzheimer Disease 2
OMIM:104311	Presenilin 1
OMIM:104350	Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
OMIM:104400	Amelia And Terminal Transverse Hemimelia
OMIM:104500	Amelogenesis Imperfecta, Type Ib
OMIM:104510	Amelogenesis Imperfecta, Type Iv
OMIM:104530	Amelogenesis Imperfecta, Hypoplastic Type
OMIM:104570	Ameloonychohypohidrotic Syndrome
OMIM:104600	Amenorrhea-Galactorrhea Syndrome
OMIM:105120	Amyloidosis, Finnish Type
OMIM:105150	Cerebral Amyloid Angiopathy, Cst3-Related
OMIM:105200	Amyloidosis, Familial Visceral
OMIM:105210	Amyloidosis, Hereditary, Transthyretin-Related
OMIM:105250	Amyloidosis, Primary Localized Cutaneous, 1
OMIM:105300	Amyotrophic Dystonic Paraplegia
OMIM:105400	Amyotrophic Lateral Sclerosis 1
OMIM:105500	Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
OMIM:105550	Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
OMIM:105563	Anal Sphincter Dysplasia
OMIM:105565	Anal Sphincter Myopathy, Internal
OMIM:105570	Androstenone, Ability To Smell
OMIM:105580	Anal Canal Carcinoma
OMIM:105600	Anemia, Congenital Dyserythropoietic, Type Iii
OMIM:105650	Diamond-Blackfan Anemia 1
OMIM:105800	Aneurysm, Intracranial Berry, 1
OMIM:105805	Aneurysm Of Interventricular Septum
OMIM:105830	Angelman Syndrome
OMIM:105835	Angel-Shaped Phalangoepiphyseal Dysplasia
OMIM:106050	Angioma Serpiginosum, Autosomal Dominant
OMIM:106070	Angioma, Hereditary Neurocutaneous
OMIM:106100	Angioedema, Hereditary, Type I
OMIM:106190	Anhidrosis, Familial Generalized, With Normal Sweat Glands
OMIM:106210	Aniridia
OMIM:106220	Aniridia And Absent Patella
OMIM:106230	Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
OMIM:106240	Anisocoria
OMIM:106250	Ankyloblepharon Filiforme Adnatum And Cleft Palate
OMIM:106260	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
OMIM:106280	Ankyloglossia
OMIM:106300	Spondyloarthropathy, Susceptibility To, 1
OMIM:106400	Ankylosing Vertebral Hyperostosis With Tylosis
OMIM:106500	Annular Erythema
OMIM:106600	Tooth Agenesis, Selective, 1
OMIM:106700	Total Anomalous Pulmonary Venous Return 1
OMIM:106750	Anonychia With Flexural Pigmentation
OMIM:106900	Anonychia-Ectrodactyly
OMIM:106990	Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
OMIM:106995	Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
OMIM:107000	Nail Disorder, Nonsyndromic Congenital, 6
OMIM:107100	Anorectal Anomalies
OMIM:107200	Anosmia, Isolated Congenital
OMIM:107250	Anterior Segment Mesenchymal Dysgenesis
OMIM:107320	Antiphospholipid Syndrome, Familial
OMIM:107480	Townes-Brocks Syndrome
OMIM:107500	Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
OMIM:107550	Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
OMIM:107600	Aplasia Cutis Congenita, Nonsyndromic
OMIM:107640	Apnea, Central Sleep
OMIM:107650	Apnea, Obstructive Sleep
OMIM:107680	Apolipoprotein A-I
OMIM:107690	Apolipoprotein A-Iv
OMIM:107700	Appendicitis, Proneness To
OMIM:107730	Apolipoprotein B
OMIM:107741	Apolipoprotein E
OMIM:107900	Arms, Malformation Of
OMIM:107950	Moved To 138800
OMIM:107970	Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
OMIM:108000	Arteries, Anomalies Of
OMIM:108010	Arteriovenous Malformations Of The Brain
OMIM:108050	Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
OMIM:108100	Arthritis, Sacroiliac
OMIM:108110	Arthrogryposis Multiplex Congenita
OMIM:108120	Arthrogryposis, Distal, Type 1a
OMIM:108145	Arthrogryposis, Distal, Type 5
OMIM:108200	Arthrogryposis, Distal, Type 6
OMIM:108300	Stickler Syndrome, Type I
OMIM:108320	Artichoke, Modification Of Taste By
OMIM:108330	Cytochrome P450, Subfamily I, Polypeptide 1
OMIM:108345	N-Acetyltransferase 1
OMIM:108370	Asparagine Synthetase
OMIM:108390	Asparagus, Specific Smell Hypersensitivity
OMIM:108450	Asymmetric Short Stature Syndrome
OMIM:108500	Episodic Ataxia, Type 2
OMIM:108600	Spastic Ataxia 1, Autosomal Dominant
OMIM:108650	Spastic Ataxia 7, Autosomal Dominant
OMIM:108700	Ataxia With Fasciculations
OMIM:108720	Atelosteogenesis, Type I
OMIM:108721	Atelosteogenesis, Type Iii
OMIM:108725	Atherosclerosis Susceptibility
OMIM:108760	Atresia Of External Auditory Canal And Conductive Deafness
OMIM:108770	Atrial Standstill
OMIM:108800	Atrial Septal Defect 1
OMIM:108900	Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
OMIM:108950	Atrial Tachyarrhythmia With Short Pr Interval
OMIM:108980	Pr Interval, Variation In
OMIM:108985	Sveinsson Chorioretinal Atrophy
OMIM:109000	Auriculoosteodysplasia
OMIM:109050	Aurocephalosyndactyly
OMIM:109100	Autoimmune Disease
OMIM:109120	Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
OMIM:109130	Axial Osteomalacia
OMIM:109150	Machado-Joseph Disease
OMIM:109160	Azotemia, Familial
OMIM:109200	Alopecia, Androgenetic, 1
OMIM:109270	Solute Carrier Family 4 (Anion Exchanger), Member 1
OMIM:109300	Banki Syndrome
OMIM:109350	Gastroesophageal Reflux
OMIM:109400	Basal Cell Nevus Syndrome
OMIM:109500	Basilar Impression, Primary
OMIM:109543	Leukemia, Chronic Lymphocytic, Susceptibility To, 2
OMIM:109560	B-Cell Leukemia/Lymphoma 3
OMIM:109600	Beeturia
OMIM:109650	Behcet Syndrome
OMIM:109720	Biliary Cirrhosis, Primary, 1
OMIM:109730	Aortic Valve Disease 1
OMIM:109740	Bifid Nose, Autosomal Dominant
OMIM:109800	Bladder Cancer
OMIM:109820	Bladder Diverticulum
OMIM:109900	Blepharochalasis And Double Lip
OMIM:110000	Blepharochalasis, Superior
OMIM:110050	Blepharonasofacial Malformation Syndrome
OMIM:110100	Blepharophimosis, Ptosis, And Epicanthus Inversus
OMIM:110150	Blepharoptosis, Myopia, And Ectopia Lentis
OMIM:110700	Blood Group, Duffy System
OMIM:110800	Blood Group, I System
OMIM:111150	Blood Group--Lutheran Inhibitor
OMIM:111620	Radin Blood Group Antigen
OMIM:112200	Blue Rubber Bleb Nevus
OMIM:112240	Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features
OMIM:112250	Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
OMIM:112270	Bone Pain, Periodic
OMIM:112300	Book Syndrome
OMIM:112310	Boomerang Dysplasia
OMIM:112350	Weismann-Netter Syndrome
OMIM:112370	Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
OMIM:112410	Hypertension With Brachydactyly
OMIM:112430	Long-Thumb Brachydactyly Syndrome
OMIM:112440	Brachydactyly, Combined B And E Types
OMIM:112450	Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
OMIM:112500	Brachydactyly, Type A1
OMIM:112600	Brachydactyly, Type A2
OMIM:112700	Brachydactyly, Type A3
OMIM:112800	Brachydactyly, Type A4
OMIM:112900	Moved To 112800
OMIM:112910	Brachydactyly, Type A6
OMIM:113000	Brachydactyly, Type B1
OMIM:113100	Brachydactyly, Type C
OMIM:113200	Brachydactyly, Type D
OMIM:113300	Brachydactyly, Type E1
OMIM:113301	Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
OMIM:113310	Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
OMIM:113400	Brachydactyly-Nystagmus-Cerebellar Ataxia
OMIM:113450	Brachydactyly-Distal Symphalangism Syndrome
OMIM:113470	Brachymesomelia-Renal Syndrome
OMIM:113475	Brachymetatarsus Iv
OMIM:113477	Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
OMIM:113480	Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
OMIM:113500	Brachyolmia Type 3
OMIM:113600	Branchial Cleft Anomalies
OMIM:113610	Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
OMIM:113620	Branchiooculofacial Syndrome
OMIM:113650	Branchiootorenal Syndrome 1
OMIM:113670	Hypertrophy Of The Breast, Juvenile
OMIM:113700	Breasts And Nipples, Absence Of
OMIM:113750	Skin/Hair/Eye Pigmentation, Variation In, 4
OMIM:113800	Epidermolytic Hyperkeratosis
OMIM:113900	Progressive Familial Heart Block, Type Ia
OMIM:113950	Bundle Branch Block, Familial Isolated Complete Right
OMIM:113970	Burkitt Lymphoma
OMIM:114000	Caffey Disease
OMIM:114030	Cafe-Au-Lait Spots, Multiple
OMIM:114065	Calcific Aortic Disease With Immunologic Abnormalities, Familial
OMIM:114100	Basal Ganglia Calcification, Idiopathic, Childhood-Onset
OMIM:114140	Callosities, Hereditary Painful
OMIM:114150	Camptobrachydactyly
OMIM:114200	Camptodactyly 1
OMIM:114290	Campomelic Dysplasia
OMIM:114300	Arthrogryposis, Distal, Type 3
OMIM:114450	Cancer, Familial, With In Vitro Radioresistance
OMIM:114480	Breast Cancer
OMIM:114500	Colorectal Cancer
OMIM:114550	Hepatocellular Carcinoma
OMIM:114580	Candidiasis, Familial, 1
OMIM:114600	Canine Teeth, Absence Of Upper Permanent
OMIM:114620	Craniofaciofrontodigital Syndrome
OMIM:114650	Car Factor Deficiency
OMIM:114700	Carabelli Anomaly Of Maxillary Molar Teeth
OMIM:114835	Carboxylesterase 1
OMIM:114890	Carcinoembryonic Antigen-Related Cell Adhesion Molecule 5
OMIM:114900	Carcinoid Tumors, Intestinal
OMIM:115000	Cardiac Arrhythmia
OMIM:115080	Cardiac Conduction Defect
OMIM:115150	Cardiofaciocutaneous Syndrome 1
OMIM:115195	Cardiomyopathy, Familial Hypertrophic, 2
OMIM:115196	Cardiomyopathy, Familial Hypertrophic, 3
OMIM:115197	Cardiomyopathy, Familial Hypertrophic, 4
OMIM:115200	Cardiomyopathy, Dilated, 1a
OMIM:115210	Cardiomyopathy, Familial Restrictive, 1
OMIM:115250	Collagenoma, Familial Cutaneous
OMIM:115300	Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
OMIM:115310	Paragangliomas 4
OMIM:115400	Carpal Displacement
OMIM:115430	Carpal Tunnel Syndrome
OMIM:115470	Cat Eye Syndrome
OMIM:115645	Cataract, Aberrant Oral Frenula, And Growth Retardation
OMIM:115650	Cataract 32, Multiple Types
OMIM:115660	Cataract 7
OMIM:115665	Cataract 8, Multiple Types
OMIM:115700	Cataract 4, Multiple Types
OMIM:115800	Cataract 29
OMIM:115900	Cataract, Floriform
OMIM:116100	Cataract 20, Multiple Types
OMIM:116150	Moved To 116200 And 107250
OMIM:116200	Cataract 1, Multiple Types
OMIM:116300	Cataract 30
OMIM:116400	Cataract 41
OMIM:116600	Cataract 6, Multiple Types
OMIM:116700	Cataract, Total Congenital
OMIM:116790	Catechol-O-Methyltransferase
OMIM:116800	Cataract 5, Multiple Types
OMIM:116850	Catatrichy
OMIM:116860	Cerebral Cavernous Malformations
OMIM:116870	Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm
OMIM:116920	Leukocyte Adhesion Deficiency, Type I
OMIM:116950	Temperature-Sensitive Af8 Complement
OMIM:117000	Central Core Disease Of Muscle
OMIM:117100	Centralopathic Epilepsy
OMIM:117210	Spinocerebellar Ataxia 31
OMIM:117300	Cerebral Amyloid Angiopathy, Itm2b-Related, 2
OMIM:117360	Spinocerebellar Ataxia 29
OMIM:117550	Sotos Syndrome 1
OMIM:117600	Cerebral Sarcoma
OMIM:117650	Cerebrocostomandibular Syndrome
OMIM:117800	Apocrine Gland Secretion, Variation In
OMIM:117850	Cervical Hypertrichosis With Underlying Kyphoscoliosis
OMIM:117900	Cervical Rib
OMIM:118000	Cervical Vertebral Bridge
OMIM:118005	Cervical Vertebral Dysplasia
OMIM:118100	Klippel-Feil Syndrome 1, Autosomal Dominant
OMIM:118200	Charcot-Marie-Tooth Disease, Demyelinating, Type 1b
OMIM:118210	Charcot-Marie-Tooth Disease, Axonal, Type 2a1
OMIM:118220	Charcot-Marie-Tooth Disease, Demyelinating, Type 1a
OMIM:118230	Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
OMIM:118300	Charcot-Marie-Tooth Disease And Deafness
OMIM:118301	Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
OMIM:118330	Cheilitis Glandularis
OMIM:118350	Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
OMIM:118400	Cherubism
OMIM:118420	Chiari Malformation Type I
OMIM:118430	Chlorpropamide-Alcohol Flushing
OMIM:118450	Alagille Syndrome 1
OMIM:118600	Chondrocalcinosis 2
OMIM:118610	Chondrocalcinosis Due To Apatite Crystal Deposition
OMIM:118650	Chondrodysplasia Punctata, Autosomal Dominant
OMIM:118651	Chondrodysplasia Punctata, Tibia-Metacarpal Type
OMIM:118700	Chorea, Benign Hereditary
OMIM:118750	Choreoathetosis, Familial Inverted
OMIM:118800	Paroxysmal Nonkinesigenic Dyskinesia 1
OMIM:118830	Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
OMIM:118865	Choroidal Osteoma, Bilateral
OMIM:118900	Cirrhosis, Familial
OMIM:118980	Clavicle, Pseudarthrosis Of, Congenital
OMIM:119000	Cleft Chin
OMIM:119100	Split-Hand/Foot Malformation With Long Bone Deficiency 1
OMIM:119300	Van Der Woude Syndrome 1
OMIM:119500	Popliteal Pterygium Syndrome
OMIM:119530	Orofacial Cleft 1
OMIM:119540	Cleft Palate, Isolated
OMIM:119550	Syngnathia
OMIM:119570	Cleft Soft Palate
OMIM:119580	Blepharocheilodontic Syndrome
OMIM:119600	Cleidocranial Dysplasia
OMIM:119650	Cleidorhizomelic Syndrome
OMIM:119800	Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
OMIM:119900	Digital Clubbing, Isolated Congenital
OMIM:119915	Cluster Headache, Familial
OMIM:120000	Coarctation Of Aorta
OMIM:120040	Cochleosaccular Degeneration With Progressive Cataracts
OMIM:120050	Coxsackievirus B3 Susceptibility
OMIM:120100	Familial Cold Autoinflammatory Syndrome 1
OMIM:120200	Coloboma, Ocular
OMIM:120300	Coloboma Of Macula
OMIM:120330	Papillorenal Syndrome
OMIM:120400	Coloboma Of Macula With Type B Brachydactyly
OMIM:120430	Coloboma Of Optic Nerve
OMIM:120433	Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
OMIM:120435	Lynch Syndrome I
OMIM:120440	Colonic Varices Without Portal Hypertension
OMIM:120450	Comedones, Familial Dyskeratotic
OMIM:120500	Commissural Lip Pits
OMIM:120502	Branchiootic Syndrome 2
OMIM:120790	Complement Component 4, Partial Deficiency Of
OMIM:120970	Cone-Rod Dystrophy 2
OMIM:121050	Arthrogryposis, Distal, Type 9
OMIM:121070	Arthrogryposis, Distal, Type 2e
OMIM:121200	Seizures, Benign Familial Neonatal, 1
OMIM:121201	Seizures, Benign Familial Neonatal, 2
OMIM:121210	Febrile Seizures, Familial, 1
OMIM:121270	Copper Deficiency, Familial Benign
OMIM:121300	Coproporphyria, Hereditary
OMIM:121350	Coracoclavicular Joint, Anomalous
OMIM:121390	Cornea Guttata With Anterior Polar Cataracts
OMIM:121400	Cornea Plana 1
OMIM:121450	Corneal Degeneration, Ribbonlike, With Deafness
OMIM:121700	Corneal Endothelial Dystrophy 1, Autosomal Dominant
OMIM:121800	Schnyder Corneal Dystrophy
OMIM:121820	Corneal Dystrophy, Epithelial Basement Membrane
OMIM:121850	Corneal Dystrophy, Fleck
OMIM:121900	Corneal Dystrophy, Groenouw Type I
OMIM:122000	Corneal Dystrophy, Posterior Polymorphous, 1
OMIM:122100	Corneal Dystrophy, Meesmann
OMIM:122200	Corneal Dystrophy, Lattice Type I
OMIM:122400	Epithelial Recurrent Erosion Dystrophy
OMIM:122430	Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
OMIM:122440	Corneodermatoosseous Syndrome
OMIM:122450	Corneal Hypesthesia, Familial
OMIM:122455	Coronary Artery Dissection, Spontaneous
OMIM:122460	Human Coronavirus Sensitivity
OMIM:122470	Cornelia De Lange Syndrome 1
OMIM:122560	Corticotropin-Releasing Hormone
OMIM:122580	Costocoracoid Ligament, Congenitally Short
OMIM:122600	Spondylocostal Dysostosis 5, Autosomal Dominant
OMIM:122700	Coumarin Resistance
OMIM:122750	Coxa Vara
OMIM:122780	Coxoauricular Syndrome
OMIM:122850	Cranioacrofacial Syndrome
OMIM:122860	Craniodiaphyseal Dysplasia, Autosomal Dominant
OMIM:122880	Craniofacial-Deafness-Hand Syndrome
OMIM:122900	Craniofacial Dysostosis With Diaphyseal Hyperplasia
OMIM:123000	Craniometaphyseal Dysplasia, Autosomal Dominant
OMIM:123050	Craniorhiny
OMIM:123100	Craniosynostosis 1
OMIM:123150	Jackson-Weiss Syndrome
OMIM:123155	Hydrocephalus, Autosomal Dominant
OMIM:123270	Creatine Kinase, Brain Type, Ectopic Expression Of
OMIM:123320	Creatine Phosphokinase, Elevated Serum
OMIM:123400	Creutzfeldt-Jakob Disease
OMIM:123450	Cri-Du-Chat Syndrome
OMIM:123500	Crouzon Syndrome
OMIM:123540	Cryofibrinogenemia, Familial Primary
OMIM:123550	Cryoglobulinemia, Familial Mixed
OMIM:123557	Cryptotia, Familial
OMIM:123560	Cryptomicrotia-Brachydactyly Syndrome
OMIM:123570	Cryptophthalmos, Unilateral Or Bilateral, Isolated
OMIM:123700	Cutis Laxa, Autosomal Dominant 1
OMIM:123790	Beare-Stevenson Cutis Gyrata Syndrome
OMIM:123853	Cyprus Facial Neuromusculoskeletal Syndrome
OMIM:123880	Cystic Angiomatosis Of Bone, Diffuse
OMIM:124000	Mitochondrial Complex Iii Deficiency, Nuclear Type 1
OMIM:124020	Cytochrome P450, Subfamily Iic, Polypeptide 19
OMIM:124060	Cytochrome P450, Subfamily I, Polypeptide 2
OMIM:124100	Danubian Endemic Familial Nephropathy
OMIM:124200	Darier-White Disease
OMIM:124300	Darwinian Tubercle Of Pinna
OMIM:124400	Darwinian Tubercle Of Pinna
OMIM:124480	Deafness, Congenital, And Onychodystrophy, Autosomal Dominant
OMIM:124490	Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
OMIM:124500	Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes
OMIM:124700	Deafness, Mid-Tone Neural
OMIM:124900	Deafness, Autosomal Dominant 1
OMIM:124950	Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
OMIM:125000	Deafness, Unilateral
OMIM:125050	Deafness With Anhidrotic Ectodermal Dysplasia
OMIM:125230	Deafness-Craniofacial Syndrome
OMIM:125250	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
OMIM:125260	Defective Interfering Particle Induction, Control Of
OMIM:125280	Dens Evaginatus
OMIM:125300	Dens In Dente And Palatal Invaginations
OMIM:125310	Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
OMIM:125320	Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques
OMIM:125350	Failure Of Tooth Eruption, Primary
OMIM:125370	Dentatorubral-Pallidoluysian Atrophy
OMIM:125400	Dentin Dysplasia, Type I
OMIM:125420	Dentin Dysplasia, Type Ii
OMIM:125440	Dentin Dysplasia With Sclerotic Bones
OMIM:125450	Deoxycytidine Kinase
OMIM:125460	Deoxyribose-5-Phosphate Aldolase Deficiency
OMIM:125480	Major Affective Disorder 1
OMIM:125490	Dentinogenesis Imperfecta 1
OMIM:125500	Dentinogenesis Imperfecta, Shields Type Iii
OMIM:125520	Cayler Cardiofacial Syndrome
OMIM:125530	Dermal Ridges, Nelson Syndrome
OMIM:125540	Dermal Ridges, Patternless
OMIM:125550	Dermal Ridges-Off-The-End
OMIM:125570	Dermatoglyphics--Arch On Any Digit
OMIM:125590	Dermatoglyphics--Fingerprint Pattern
OMIM:125595	Dermatopathia Pigmentosa Reticularis
OMIM:125600	Dermatosis Papulosa Nigra
OMIM:125630	Dermodistortive Urticaria
OMIM:125635	Dermographism, Familial
OMIM:125640	Dermoodontodysplasia
OMIM:125700	Diabetes Insipidus, Neurohypophyseal
OMIM:125800	Diabetes Insipidus, Nephrogenic, Autosomal
OMIM:125850	Maturity-Onset Diabetes Of The Young, Type 1
OMIM:125851	Maturity-Onset Diabetes Of The Young, Type 2
OMIM:125852	Diabetes Mellitus, Insulin-Dependent, 2
OMIM:125853	Diabetes Mellitus, Noninsulin-Dependent
OMIM:125900	Diastema, Dental Medial
OMIM:125950	Diazepam Binding Inhibitor
OMIM:126050	Digitotalar Dysmorphism
OMIM:126070	Dilution, Pigmentary
OMIM:126100	Dimples, Facial
OMIM:126150	Heparin-Binding Egf-Like Growth Factor
OMIM:126180	Discrimination, Two-Point, Reduction In
OMIM:126190	Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
OMIM:126200	Multiple Sclerosis, Susceptibility To
OMIM:126250	Distal Osteosclerosis
OMIM:126300	Distichiasis
OMIM:126320	Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
OMIM:126500	Double Nail For Fifth Toe
OMIM:126550	Doughnut Lesions Of Skull, Familial
OMIM:126600	Doyne Honeycomb Retinal Dystrophy
OMIM:126700	Basal Laminar Drusen
OMIM:126800	Duane Retraction Syndrome 1
OMIM:126840	Duodenal Ulcer Due To Antral G-Cell Hyperfunction
OMIM:126850	Duodenal Ulcer, Hyperpepsinogenemic I
OMIM:126900	Dupuytren Contracture
OMIM:126950	Dwarfism With Tall Vertebrae
OMIM:127000	Kenny-Caffey Syndrome, Type 2
OMIM:127100	Dwarfism, Levi Type
OMIM:127200	Dwarfism With Stiff Joints And Ocular Abnormalities
OMIM:127300	Leri-Weill Dyschondrosteosis
OMIM:127350	Dyschondrosteosis And Nephritis
OMIM:127400	Dyschromatosis Symmetrica Hereditaria
OMIM:127500	Dyschromatosis Universalis Hereditaria 1
OMIM:127550	Dyskeratosis Congenita, Autosomal Dominant, 1
OMIM:127600	Dyskeratosis, Hereditary Benign Intraepithelial
OMIM:127700	Dyslexia, Susceptibility To, 1
OMIM:127750	Dementia, Lewy Body
OMIM:127800	Dysplasia Epiphysealis Hemimelica
OMIM:127820	Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
OMIM:128000	Dystelephalangy
OMIM:128100	Dystonia 1, Torsion, Autosomal Dominant
OMIM:128101	Dystonia 4, Torsion, Autosomal Dominant
OMIM:128200	Episodic Kinesigenic Dyskinesia 1
OMIM:128230	Dystonia, Dopa-Responsive
OMIM:128235	Dystonia 12
OMIM:128290	Ear Antitragus, Tag At Base Of
OMIM:128300	Ear Exostoses
OMIM:128400	Ear Flare
OMIM:128500	Ear Folding
OMIM:128600	Ear Malformation
OMIM:128700	Preauricular Fistulae, Congenital
OMIM:128710	Ear Pits, Posterior Helical
OMIM:128800	Ear Without Helix
OMIM:128900	Earlobe Attachment, Attached Vs Unattached
OMIM:128950	Earlobe Crease
OMIM:128980	Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
OMIM:129000	Earring Holes, Natural
OMIM:129100	Ears, Ability To Move
OMIM:129150	Echo Virus 11 Sensitivity
OMIM:129200	Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities
OMIM:129400	Rapp-Hodgkin Syndrome
OMIM:129490	Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
OMIM:129500	Clouston Syndrome
OMIM:129510	Ectodermal Dysplasia, Trichoodontoonychial Type
OMIM:129540	Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
OMIM:129550	Ectodermal Dysplasia With Adrenal Cyst
OMIM:129600	Ectopia Lentis 1, Isolated, Autosomal Dominant
OMIM:129750	Ectopia Pupillae
OMIM:129810	Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
OMIM:129830	Ectrodactyly-Cleft Palate Syndrome
OMIM:129840	Edema, Familial Idiopathic, Prepubertal
OMIM:129850	Edinburgh Malformation Syndrome
OMIM:129900	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
OMIM:130000	Ehlers-Danlos Syndrome, Type I
OMIM:130010	Ehlers-Danlos Syndrome, Type Ii
OMIM:130020	Ehlers-Danlos Syndrome, Type Iii
OMIM:130050	Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant
OMIM:130060	Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant
OMIM:130070	Ehlers-Danlos Syndrome, Progeroid Type, 1
OMIM:130080	Ehlers-Danlos Syndrome, Type Viii
OMIM:130090	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
OMIM:130100	Elastosis Perforans Serpiginosa
OMIM:130180	Electroencephalogram, Low-Voltage
OMIM:130190	Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus
OMIM:130200	Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
OMIM:130300	Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
OMIM:130400	Electroencephalographic Peculiarity: Occipital Slow Beta Waves
OMIM:130600	Elliptocytosis 2
OMIM:130650	Beckwith-Wiedemann Syndrome
OMIM:130700	Emphysema, Hereditary Pulmonary
OMIM:130710	Emphysema, Congenital Lobar
OMIM:130720	Lateral Meningocele Syndrome
OMIM:130900	Amelogenesis Imperfecta, Type Iii
OMIM:130950	Encephalopathy, Recurrent, Of Childhood
OMIM:131100	Multiple Endocrine Neoplasia, Type I
OMIM:131200	Endometriosis, Susceptibility To, 1
OMIM:131300	Camurati-Engelmann Disease
OMIM:131400	Eosinophilia, Familial
OMIM:131430	Eosinophilopenia
OMIM:131440	Myeloproliferative Disorder, Chronic, With Eosinophilia
OMIM:131445	Moved To 137800
OMIM:131450	Epiblepharon Of Lower Lid
OMIM:131460	Epiblepharon Of Upper Lid
OMIM:131500	Epicanthus
OMIM:131600	Epidermoid Cysts
OMIM:131705	Transient Bullous Dermolysis Of The Newborn
OMIM:131750	Epidermolysis Bullosa Dystrophica, Autosomal Dominant
OMIM:131760	Epidermolysis Bullosa Simplex, Dowling-Meara Type
OMIM:131800	Epidermolysis Bullosa Simplex, Localized
OMIM:131850	Epidermolysis Bullosa Dystrophica, Pretibial
OMIM:131880	Epidermolysis Bullosa With Deficiency Of Galactosylhydroxylysyl Glucosyltransferase
OMIM:131900	Epidermolysis Bullosa Simplex, Generalized
OMIM:131950	Epidermolysis Bullosa Simplex, Ogna Type
OMIM:131960	Epidermolysis Bullosa Simplex With Mottled Pigmentation
OMIM:132000	Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
OMIM:132090	Epilepsy, Benign Occipital
OMIM:132100	Photoparoxysmal Response 1
OMIM:132300	Epilepsy, Reading
OMIM:132400	Epiphyseal Dysplasia, Multiple, 1
OMIM:132450	Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
OMIM:132500	Epistaxis, Hereditary
OMIM:132600	Pilomatrixoma
OMIM:132700	Cylindromatosis, Familial
OMIM:132800	Multiple Self-Healing Squamous Epithelioma, Susceptibility To
OMIM:132810	Epoxide Hydrolase 1, Microsomal
OMIM:132900	Aortic Aneurysm, Familial Thoracic 4
OMIM:132990	Erythema Nodosum, Familial
OMIM:133000	Erythema Palmare Hereditarium
OMIM:133020	Erythermalgia, Primary
OMIM:133100	Erythrocytosis, Familial, 1
OMIM:133180	Erythroleukemia, Familial
OMIM:133190	Spinocerebellar Ataxia 34
OMIM:133200	Erythrokeratodermia Variabilis Et Progressiva
OMIM:133239	Esophageal Cancer
OMIM:133240	Esophageal Ring, Lower
OMIM:133500	Exchondrosis Of Pinna, Posterior
OMIM:133540	Cockayne Syndrome B
OMIM:133600	Exostoses Of Heel
OMIM:133690	Exostoses With Anetodermia And Brachydactyly, Type E
OMIM:133700	Exostoses, Multiple, Type I
OMIM:133701	Exostoses, Multiple, Type Ii
OMIM:133705	External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
OMIM:133750	Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
OMIM:133780	Exudative Vitreoretinopathy 1
OMIM:133800	Eyebrow, Whorl In
OMIM:133900	Hemifacial Hyperplasia
OMIM:134000	Facial Hypertrichosis
OMIM:134200	Facial Palsy, Familial Recurrent Peripheral
OMIM:134300	Facial Spasm
OMIM:134400	Factor V Excess With Spontaneous Thrombosis
OMIM:134430	Factor Vii And Factor Viii, Combined Deficiency Of
OMIM:134500	Factor Viii Deficiency
OMIM:134510	Factor Viii And Factor Ix, Combined Deficiency Of
OMIM:134520	Factors Viii, Ix And Xi, Combined Deficiency Of
OMIM:134540	Factor Ix And Factor Xi, Combined Deficiency Of
OMIM:134600	Fanconi Renotubular Syndrome 1
OMIM:134610	Familial Mediterranean Fever, Autosomal Dominant
OMIM:134700	Favism, Susceptibility To
OMIM:134750	Felty Syndrome
OMIM:134780	Femoral-Facial Syndrome
OMIM:134900	Fibrinolytic Defect
OMIM:135100	Fibrodysplasia Ossificans Progressiva
OMIM:135150	Birt-Hogg-Dube Syndrome
OMIM:135290	Desmoid Disease, Hereditary
OMIM:135300	Fibromatosis, Gingival, 1
OMIM:135400	Hypertrichosis Terminalis, Generalized, With Or Without Gingival Hyperplasia
OMIM:135500	Zimmermann-Laband Syndrome
OMIM:135550	Fibromatosis, Gingival, With Progressive Deafness
OMIM:135580	Fibromuscular Dysplasia Of Arteries
OMIM:135700	Fibrosis Of Extraocular Muscles, Congenital, 1
OMIM:135750	Laurin-Sandrow Syndrome
OMIM:135800	Fibula, Recurrent Dislocation Of Head Of
OMIM:135900	Coffin-Siris Syndrome
OMIM:135950	Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
OMIM:136000	Adermatoglyphia
OMIM:136100	Fingers, Relative Length Of
OMIM:136120	Fish-Eye Disease
OMIM:136140	Floating-Harbor Syndrome
OMIM:136150	Flood Factor Deficiency
OMIM:136200	Flushing Of Ears And Somnolence
OMIM:136300	Flynn-Aird Syndrome
OMIM:136400	Focal Epithelial Hyperplasia Of The Oral Mucosa
OMIM:136480	Fourth Cranial Nerve Palsy, Familial Congenital
OMIM:136500	Focal Facial Dermal Dysplasia 1, Brauer Type
OMIM:136520	Foveal Hypoplasia 1
OMIM:136550	Macular Dystrophy, Retinal, 1, North Carolina Type
OMIM:136570	Chromosome 16p12.1 Deletion Syndrome, 520-Kb
OMIM:136580	Fragile Site 16q22
OMIM:136600	Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
OMIM:136610	Fragile Site 2q11
OMIM:136630	Mental Retardation, Fra12a Type
OMIM:136680	Frasier Syndrome
OMIM:136760	Frontonasal Dysplasia 1
OMIM:136800	Corneal Dystrophy, Fuchs Endothelial, 1
OMIM:136820	Fucosidase, Alpha-L, 2
OMIM:136880	Fundus Albipunctatus
OMIM:136900	Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
OMIM:137000	Futcher Line
OMIM:137040	Gallbladder, Agenesis Of
OMIM:137050	Gamma-A-Globulin, Defect In Assembly Of
OMIM:137100	Immunoglobulin A Deficiency 1
OMIM:137130	Gastric Sneezing
OMIM:137200	Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
OMIM:137210	Gastric Volvulus, Intrathoracic
OMIM:137215	Gastric Cancer, Hereditary Diffuse
OMIM:137240	Gastric Inhibitory Polypeptide
OMIM:137270	Gastrocutaneous Syndrome
OMIM:137280	Gastritis, Familial Giant Hypertrophic
OMIM:137360	Genochondromatosis
OMIM:137370	Genu Valgum, St. Helena Familial
OMIM:137400	Geographic Tongue And Fissured Tongue
OMIM:137440	Gerstmann-Straussler Disease
OMIM:137500	Giant Neutrophil Leukocytes
OMIM:137550	Giant Pigmented Hairy Nevus
OMIM:137560	Giant Platelet Syndrome With Thrombocytopenia
OMIM:137575	Gigantiform Cementoma, Familial
OMIM:137580	Gilles De La Tourette Syndrome
OMIM:137600	Iridogoniodysgenesis, Type 2
OMIM:137700	Glaucoma With Elevated Episcleral Venous Pressure
OMIM:137750	Glaucoma 1, Open Angle, A
OMIM:137760	Glaucoma, Primary Open Angle
OMIM:137763	Glaucoma And Sleep Apnea
OMIM:137765	Moved To 608328
OMIM:137800	Glioma Susceptibility 1
OMIM:137900	Globulin Anomaly Involving Beta (2a)-Globulin
OMIM:137920	Renal Cysts And Diabetes Syndrome
OMIM:137940	Glomerulonephritis With Sparse Hair And Telangiectases
OMIM:137950	Glomerulopathy With Fibronectin Deposits 1
OMIM:138000	Glomuvenous Malformations
OMIM:138040	Glucocorticoid Receptor
OMIM:138070	Glucoglycinuria
OMIM:138300	Glutathione Reductase
OMIM:138500	Hyperglycinuria
OMIM:138770	Gms Syndrome
OMIM:138790	Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
OMIM:138800	Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
OMIM:138900	Uric Acid Concentration, Serum, Quantitative Trait Locus 1
OMIM:138920	Granddad Syndrome
OMIM:138930	Grant Syndrome
OMIM:138990	Granulomatous Disease, Chronic, Autosomal Dominant Type
OMIM:139000	Granulosis Rubra Nasi
OMIM:139090	Gray Platelet Syndrome
OMIM:139100	Graying Of Hair, Precocious
OMIM:139210	Myhre Syndrome
OMIM:139300	Aromatase Excess Syndrome
OMIM:139393	Guillain-Barre Syndrome, Familial
OMIM:139400	Hair Whorl
OMIM:139450	Hair Morphology 2
OMIM:139500	Hairy Ears
OMIM:139600	Hairy Elbows
OMIM:139630	Hairy Nose Tip
OMIM:139650	Hairy Palms And Soles
OMIM:139750	Hand And Foot Deformity With Flat Facies
OMIM:139900	Hand Skill, Relative
OMIM:140000	Hand-Foot-Genital Syndrome
OMIM:140300	Hashimoto Thyroiditis
OMIM:140350	Hawkinsinuria
OMIM:140400	Progressive Familial Heart Block, Type Ii
OMIM:140450	Heart-Hand Syndrome, Spanish Type
OMIM:140500	Heart, Malformation Of
OMIM:140600	Osteoarthritis Susceptibility 2
OMIM:140700	Heinz Body Anemias
OMIM:140850	Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
OMIM:140900	Hemangiomas Of Small Intestine
OMIM:141000	Hemangioma-Thrombocytopenia Syndrome
OMIM:141200	Hematuria, Benign Familial
OMIM:141300	Hemifacial Atrophy, Progressive
OMIM:141350	Hemifacial Hyperplasia With Strabismus
OMIM:141400	Hemifacial Microsomia With Radial Defects
OMIM:141405	Hemifacial Spasm, Familial
OMIM:141500	Migraine, Familial Hemiplegic, 1
OMIM:141700	Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
OMIM:141749	Fetal Hemoglobin Quantitative Trait Locus 1
OMIM:141750	Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
OMIM:141800	Hemoglobin--Alpha Locus 1
OMIM:141860	Hemoglobin--Alpha Locus 3
OMIM:141900	Hemoglobin--Beta Locus
OMIM:142000	Hemoglobin--Delta Locus
OMIM:142100	Hemoglobin--Epsilon Locus
OMIM:142240	Hemoglobin--Theta-1 Locus
OMIM:142309	Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
OMIM:142310	Hemoglobin--Zeta Locus
OMIM:142330	Hepatic Adenomas, Familial
OMIM:142335	Fetal Hemoglobin Quantitative Trait Locus 5
OMIM:142340	Diaphragmatic Hernia, Congenital
OMIM:142350	Hernia, Double Inguinal
OMIM:142395	Hepatitis B Vaccine, Response To
OMIM:142400	Hernia, Hiatus
OMIM:142470	Fetal Hemoglobin Quantitative Trait Locus 2
OMIM:142500	Heterochromia Iridis
OMIM:142623	Hirschsprung Disease, Susceptibility To, 1
OMIM:142625	Hirsutism, Skeletal Dysplasia, And Mental Retardation
OMIM:142630	Histiocytosis, Progressive Mucinous
OMIM:142669	Hip Dysplasia, Beukes Type
OMIM:142680	Periodic Fever, Familial, Autosomal Dominant
OMIM:142690	Acne Inversa, Familial, 1
OMIM:142700	Developmental Dysplasia Of The Hip 1
OMIM:142860	Major Histocompatibility Complex, Class Ii, Dr Alpha
OMIM:142900	Holt-Oram Syndrome
OMIM:142945	Holoprosencephaly 3
OMIM:142946	Holoprosencephaly 4
OMIM:143000	Horner Syndrome, Congenital
OMIM:143050	Humeroradial Synostosis
OMIM:143095	Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
OMIM:143100	Huntington Disease
OMIM:143200	Wagner Vitreoretinopathy
OMIM:143400	Multicystic Renal Dysplasia, Bilateral
OMIM:143465	Attention Deficit-Hyperactivity Disorder
OMIM:143470	Hyperalphalipoproteinemia 1
OMIM:143500	Gilbert Syndrome
OMIM:143850	Orthostatic Hypotensive Disorder, Streeten Type
OMIM:143860	Hyperchlorhidrosis, Isolated
OMIM:143870	Hypercalciuria, Absorptive, 2
OMIM:143880	Hypercalcemia, Infantile
OMIM:143890	Hypercholesterolemia, Familial
OMIM:144010	Hypercholesterolemia, Autosomal Dominant, Type B
OMIM:144020	Hypercholesterolemia Suppressor
OMIM:144050	Hyperheparinemia
OMIM:144100	Hyperhidrosis, Gustatory
OMIM:144110	Hyperhidrosis Palmaris Et Plantaris
OMIM:144120	Hyperimmunoglobulin G1(A1) Syndrome
OMIM:144150	Hyperkeratosis Lenticularis Perstans
OMIM:144190	Hyperkeratosis-Hyperpigmentation Syndrome
OMIM:144200	Palmoplantar Keratoderma, Epidermolytic
OMIM:144250	Hyperlipidemia, Familial Combined
OMIM:144300	Hyperlipoproteinemia, Type Ii, And Deafness
OMIM:144400	Moved To 143890
OMIM:144600	Hyperlipoproteinemia, Type Iv
OMIM:144650	Hyperlipoproteinemia, Type V
OMIM:144700	Renal Cell Carcinoma, Nonpapillary
OMIM:144750	Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus
OMIM:144755	Hyperostosis Cranialis Interna
OMIM:144800	Hyperostosis Frontalis Interna
OMIM:145000	Hyperparathyroidism 1
OMIM:145001	Hyperparathyroidism 2
OMIM:145100	Hyperpigmentation Of Eyelids
OMIM:145200	Hyperpigmentation Of Fuldauer And Kuijpers
OMIM:145250	Hyperpigmentation, Familial Progressive, 2
OMIM:145260	Pseudohypoaldosteronism, Type Iia
OMIM:145270	Hyperproglucagonemia
OMIM:145290	Hyperreflexia
OMIM:145295	Hypersecretion Of Adrenal Androgens, Familial
OMIM:145300	Hypersensitivity Pneumonitis, Familial
OMIM:145350	Hypertaurinuric Cardiomyopathy
OMIM:145400	Hypertelorism
OMIM:145410	Opitz Gbbb Syndrome, Autosomal Dominant
OMIM:145420	Hypertelorism, Teebi Type
OMIM:145500	Hypertension, Essential
OMIM:145590	Hyperthermia, Cutaneous, With Headaches And Nausea
OMIM:145600	Malignant Hyperthermia, Susceptibility To, 1
OMIM:145650	Thyroid Hormone Resistance, Selective Pituitary
OMIM:145680	Dystransthyretinemic Euthyroidal Hyperthyroxinemia
OMIM:145700	Hypertrichosis Universalis
OMIM:145701	Hypertrichosis Universalis Congenita, Ambras Type
OMIM:145750	Hypertriglyceridemia, Familial
OMIM:145800	Hypertrophia Musculorum Vera
OMIM:145900	Hypertrophic Neuropathy Of Dejerine-Sottas
OMIM:145980	Hypocalciuric Hypercalcemia, Familial, Type I
OMIM:145981	Hypocalciuric Hypercalcemia, Familial, Type Ii
OMIM:146000	Hypochondroplasia
OMIM:146110	Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
OMIM:146160	Hypomelia With Mullerian Duct Anomalies
OMIM:146200	Hypoparathyroidism, Familial Isolated
OMIM:146255	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
OMIM:146300	Hypophosphatasia, Adult
OMIM:146350	Hypophosphatemic Bone Disease
OMIM:146390	Chromosome 18p Deletion Syndrome
OMIM:146400	Hypoplasia Of Teeth Roots
OMIM:146450	Hypospadias 3, Autosomal
OMIM:146500	Multiple System Atrophy 1, Susceptibility To
OMIM:146510	Pallister-Hall Syndrome
OMIM:146520	Hypotrichosis 2
OMIM:146550	Hypotrichosis 4
OMIM:146590	Ichthyosis Hystrix, Curth-Macklin Type
OMIM:146600	Ichthyosis Hystrix Gravior
OMIM:146700	Ichthyosis Vulgaris
OMIM:146720	Ichthyosis--Cheek--Eyebrow Syndrome
OMIM:146750	Ichthyosis, Lamellar, Autosomal Dominant
OMIM:146800	Ichthyosis, Bullous Type
OMIM:146830	Immune Deficiency, Familial Variable
OMIM:146840	Immunodeficiency With Defective Leukocyte And Lymphocyte Function And With Response To Histamine-1 Antagonist
OMIM:146850	Immune Suppression
OMIM:147050	Ige Responsiveness, Atopic
OMIM:147060	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
OMIM:147100	Igg Heavy Chain Locus
OMIM:147250	Solitary Median Maxillary Central Incisor
OMIM:147251	Incisors, Fused Mandibular
OMIM:147300	Incisors, Long Upper Central
OMIM:147320	Insulin Receptors, Familial Increase In
OMIM:147330	Incisors, Lower Central, Absence Of
OMIM:147350	Incisors, Rotation Of Upper Central
OMIM:147400	Incisors, Shovel-Shaped
OMIM:147421	Inclusion Body Myositis
OMIM:147430	Indifference To Pain, Congenital, Autosomal Dominant
OMIM:147480	Cholestasis, Intrahepatic, Of Pregnancy, 1
OMIM:147530	Insensitivity To Pain With Hyperplastic Myelinopathy
OMIM:147540	Insect Stings, Hypersensitivity To
OMIM:147610	Iris Pigment Layer, Cleavage Of
OMIM:147630	Islet Cell Adenomatosis
OMIM:147710	Intussusception
OMIM:147750	Ivic Syndrome
OMIM:147770	Johnson Neuroectodermal Syndrome
OMIM:147791	Jacobsen Syndrome
OMIM:147800	Aase-Smith Syndrome I
OMIM:147820	Internal Carotid Artery, Spontaneous Dissection Of
OMIM:147891	Small Patella Syndrome
OMIM:147892	Deiodinase, Iodothyronine, Type I
OMIM:147900	Joint Laxity, Familial
OMIM:147920	Kabuki Syndrome 1
OMIM:147950	Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
OMIM:148000	Kaposi Sarcoma, Susceptibility To
OMIM:148050	Kbg Syndrome
OMIM:148100	Keloid Formation
OMIM:148190	Keratitis, Hereditary
OMIM:148200	Keratitis Fugax Hereditaria
OMIM:148210	Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
OMIM:148300	Keratoconus 1
OMIM:148350	Keratoderma, Palmoplantar, With Deafness
OMIM:148360	Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy
OMIM:148370	Keratolytic Winter Erythema
OMIM:148390	Keratosis, Familial Actinic
OMIM:148500	Tylosis With Esophageal Cancer
OMIM:148520	Keratosis Palmaris Et Plantaris With Clinodactyly
OMIM:148600	Palmoplantar Keratoderma, Punctate Type Ia
OMIM:148700	Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
OMIM:148730	Keratosis, Focal Palmoplantar And Gingival
OMIM:148800	Kleeblattschaedel
OMIM:148820	Waardenburg Syndrome, Type 3
OMIM:148840	Kleine-Levin Hibernation Syndrome
OMIM:149000	Klippel-Trenaunay-Weber Syndrome
OMIM:149100	Knuckle Pads
OMIM:149200	Knuckle Pads, Leukonychia, And Sensorineural Deafness
OMIM:149300	Nail Disorder, Nonsyndromic Congenital, 2
OMIM:149400	Hyperekplexia, Hereditary 1
OMIM:149500	Kyrle Disease
OMIM:149600	Labia Minora, Incomplete Adhesion Of
OMIM:149700	Lacrimal Duct Defect
OMIM:149730	Lacrimoauriculodentodigital Syndrome
OMIM:150170	Lactic Acidosis, Chronic Adult Form
OMIM:150230	Trichorhinophalangeal Syndrome, Type Ii
OMIM:150250	Larsen Syndrome
OMIM:150260	Laryngeal Abductor Paralysis
OMIM:150270	Laryngeal Adductor Paralysis
OMIM:150280	Laryngomalacia
OMIM:150300	Larynx, Congenital Partial Atresia Of
OMIM:150360	Laryngeal Web, Familial
OMIM:150400	Tooth Agenesis, Selective, 4
OMIM:150500	Lattice Degeneration Of Retina Leading To Retinal Detachment
OMIM:150550	Lazy Leukocyte Syndrome
OMIM:150590	Leg Ulcers, Familial, Of Juvenile Onset
OMIM:150600	Legg-Calve-Perthes Disease
OMIM:150699	Leiomyoma, Uterine
OMIM:150700	Leiomyoma Of Vulva And Esophagus
OMIM:150800	Hereditary Leiomyomatosis And Renal Cell Cancer
OMIM:150900	Lentigines
OMIM:151000	Lentiginosis, Centrofacial Neurodysraphic
OMIM:151001	Lentiginosis, Inherited Patterned
OMIM:151050	Lenz-Majewski Hyperostotic Dwarfism
OMIM:151100	Leopard Syndrome 1
OMIM:151200	Leri Pleonosteosis
OMIM:151210	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
OMIM:151380	Leukemia, Acute Monocytic
OMIM:151400	Leukemia, Chronic Lymphocytic
OMIM:151430	B-Cell Cll/Lymphoma 2
OMIM:151440	Lymphoblastic Leukemia-Derived Sequence 1
OMIM:151441	Leukemia/Lymphoma, Chronic B-Cell, 5
OMIM:151500	Leukocyte Nuclear Appendages, Hereditary Prevalence Of
OMIM:151590	Lichen Sclerosus Et Atrophicus
OMIM:151600	Nail Disorder, Nonsyndromic Congenital, 3
OMIM:151610	Levator-Medial Rectus Synkinesis
OMIM:151620	Lichen Planus, Familial
OMIM:151623	Li-Fraumeni Syndrome 1
OMIM:151630	Lip, Median Nodule Of Upper
OMIM:151640	Lip, Hamartomatous
OMIM:151660	Lipodystrophy, Familial Partial, Type 2
OMIM:151700	Lipoma Of The Conjunctiva
OMIM:151800	Lipomatosis, Multiple Symmetric
OMIM:151900	Lipomatosis, Multiple
OMIM:152200	Apolipoprotein(A)
OMIM:152420	Lithium Transport
OMIM:152550	Lumbar Stenosis, Familial
OMIM:152600	Lunulae Of Fingernails
OMIM:152700	Systemic Lupus Erythematosus
OMIM:152780	Luteinizing Hormone, Beta Polypeptide
OMIM:152800	Lymphangiectasia, Intestinal
OMIM:152900	Lymphedema And Cerebral Arteriovenous Anomaly
OMIM:152950	Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
OMIM:153100	Lymphedema, Hereditary, Ia
OMIM:153200	Lymphedema, Hereditary, Ii
OMIM:153300	Yellow Nail Syndrome
OMIM:153400	Lymphedema-Distichiasis Syndrome
OMIM:153470	Macrocephaly, Benign Familial
OMIM:153480	Bannayan-Riley-Ruvalcaba Syndrome
OMIM:153550	Chromosome 5q Deletion Syndrome
OMIM:153600	Macroglobulinemia, Waldenstrom, Susceptibility To, 1
OMIM:153630	Macroglossia
OMIM:153640	Fechtner Syndrome
OMIM:153650	Epstein Syndrome
OMIM:153670	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
OMIM:153700	Macular Dystrophy, Vitelliform
OMIM:153800	Macular Degeneration, Age-Related, 2
OMIM:153840	Macular Dystrophy, Atypical Vitelliform
OMIM:153870	Macular Dystrophy, Concentric Annular
OMIM:153880	Macular Edema, Cystoid
OMIM:153890	Macular Dystrophy, Fenestrated Sheen Type
OMIM:154000	Macules, Hereditary Congenital Hypopigmented And Hyperpigmented
OMIM:154020	Hypomagnesemia 2, Renal
OMIM:154230	46,Xy Sex Reversal 4
OMIM:154275	Malignant Hyperthermia, Susceptibility To, 2
OMIM:154276	Malignant Hyperthermia, Susceptibility To, 3
OMIM:154300	Malocclusion Due To Protuberant Upper Front Teeth
OMIM:154400	Acrofacial Dysostosis 1, Nager Type
OMIM:154500	Treacher Collins Syndrome 1
OMIM:154570	Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
OMIM:154600	Marcus Gunn Phenomenon
OMIM:154700	Marfan Syndrome
OMIM:154750	Marfanoid Hypermobility Syndrome
OMIM:154780	Marshall Syndrome
OMIM:154800	Mast Cell Disease
OMIM:154850	Masticatory Muscles, Hypertrophy Of
OMIM:155000	Maxillofacial Dysostosis
OMIM:155050	Maxillonasal Dysplasia, Binder Type
OMIM:155100	May-Hegglin Anomaly
OMIM:155140	Meckel Diverticulum
OMIM:155145	Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
OMIM:155150	Median-Ulnar Nerve Communications
OMIM:155200	Mediosternal Depigmentation Line
OMIM:155240	Thyroid Carcinoma, Familial Medullary
OMIM:155255	Medulloblastoma
OMIM:155310	Megaduodenum And/Or Megacystis
OMIM:155350	Megalencephaly, Autosomal Dominant
OMIM:155500	Megalodactyly
OMIM:155600	Melanoma, Cutaneous Malignant, Susceptibility To, 1
OMIM:155601	Melanoma, Cutaneous Malignant, Susceptibility To, 2
OMIM:155700	Melanoma, Malignant Familial Intraocular
OMIM:155720	Melanoma, Uveal
OMIM:155755	Melanoma-Astrocytoma Syndrome
OMIM:155800	Melanosis, Universal
OMIM:155900	Melkersson-Rosenthal Syndrome
OMIM:155950	Melorheostosis, Isolated
OMIM:155980	Membranous Cranial Ossification, Delayed
OMIM:156000	Meniere Disease
OMIM:156190	Mental And Growth Retardation With Amblyopia
OMIM:156200	Mental Retardation, Autosomal Dominant 1
OMIM:156220	Meralgia Paraesthetica, Familial
OMIM:156230	Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
OMIM:156232	Mesomelic Dysplasia, Kantaputra Type
OMIM:156240	Mesothelioma, Malignant
OMIM:156250	Metachondromatosis
OMIM:156310	Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
OMIM:156400	Metaphyseal Chondrodysplasia, Jansen Type
OMIM:156500	Metaphyseal Chondrodysplasia, Schmid Type
OMIM:156510	Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
OMIM:156520	Metatarsus Varus, Type I
OMIM:156530	Metatropic Dysplasia
OMIM:156550	Kniest Dysplasia
OMIM:156580	Microcephaly, Autosomal Dominant
OMIM:156590	Moved To 152950
OMIM:156600	Microcoria, Congenital
OMIM:156610	Skin Creases, Multiple Benign Ring-Shaped, Of Limbs
OMIM:156620	Microcephaly-Deafness Syndrome
OMIM:156700	Microcornea, Glaucoma, And Absent Frontal Sinuses
OMIM:156810	Microgastria-Limb Reduction Defects Association
OMIM:156830	Micromelic Bone Dysplasia With Cloverleaf Skull
OMIM:156850	Microphthalmia, Isolated, With Cataract 1
OMIM:156900	Microphthalmia, Isolated, With Corectopia
OMIM:157150	Microspherophakia With Hernia
OMIM:157151	Microspherophakia-Metaphyseal Dysplasia
OMIM:157170	Holoprosencephaly 2
OMIM:157200	Midphalangeal Hair
OMIM:157300	Migraine With Or Without Aura, Susceptibility To, 1
OMIM:157400	Milia, Multiple Eruptive
OMIM:157600	Mirror Movements 1
OMIM:157640	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1
OMIM:157700	Mitral Valve Prolapse, Familial
OMIM:157800	Mitral Regurgitation, Conductive Deafness, And Fusion Of Cervical Vertebrae And Of Carpal And Tarsal Bones
OMIM:157900	Moebius Syndrome
OMIM:157950	Permanent Molars, Secondary Retention Of
OMIM:157980	Momo Syndrome
OMIM:158000	Monilethrix
OMIM:158100	Monophalangy Of Great Toe
OMIM:158170	Chromosome 9p Deletion Syndrome
OMIM:158250	Nondisjunction
OMIM:158280	Motion Sickness
OMIM:158300	Arthrogryposis, Distal, Type 7
OMIM:158310	Mucoepithelial Dysplasia, Hereditary
OMIM:158320	Muir-Torre Syndrome
OMIM:158330	Mullerian Aplasia And Hyperandrogenism
OMIM:158345	Multiple Exostoses With Spastic Tetraparesis
OMIM:158350	Cowden Syndrome 1
OMIM:158400	Muscle Cramps, Familial
OMIM:158500	Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
OMIM:158580	Neuronopathy, Distal Hereditary Motor, Type Viia
OMIM:158590	Neuronopathy, Distal Hereditary Motor, Type Iia
OMIM:158600	Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
OMIM:158650	Muscular Atrophy, Malignant Neurogenic
OMIM:158800	Muscular Dystrophy, Barnes Type
OMIM:158810	Bethlem Myopathy
OMIM:158900	Facioscapulohumeral Muscular Dystrophy 1
OMIM:158901	Facioscapulohumeral Muscular Dystrophy 2
OMIM:159000	Muscular Dystrophy, Limb-Girdle, Type 1a
OMIM:159001	Muscular Dystrophy, Limb-Girdle, Type 1b
OMIM:159050	Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
OMIM:159100	Muscular Hypoplasia, Congenital Universal, Of Krabbe
OMIM:159300	Musical Perfect Pitch
OMIM:159400	Myasthenia, Limb-Girdle, Autoimmune
OMIM:159410	Mydriatic Response To Pharmacologic Agents
OMIM:159420	Mydriasis, Congenital
OMIM:159500	Myelinated Optic Nerve Fibers
OMIM:159550	Myelocerebellar Disorder
OMIM:159555	Lysine-Specific Methyltransferase 2a
OMIM:159556	Myeloid/Lymphoid Or Mixed Lineage Leukemia, Translocated To, 1
OMIM:159557	Af4/Fmr2 Family, Member 1
OMIM:159558	Myeloid/Lymphoid Or Mixed Lineage Leukemia, Translocated To, 3
OMIM:159580	Myelopathy, Htlv-1-Associated
OMIM:159595	Myeloproliferative Syndrome, Transient
OMIM:159600	Myoclonic Epilepsy, Hartung Type
OMIM:159700	Myoclonus And Ataxia
OMIM:159800	Myoclonus, Cerebellar Ataxia, And Deafness
OMIM:159900	Myoclonic Dystonia
OMIM:159950	Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
OMIM:160010	Myoglobinuria, Autosomal Dominant
OMIM:160120	Episodic Ataxia, Type 1
OMIM:160150	Myopathy, Centronuclear, 1
OMIM:160300	Myopathy, Distal, With Onset In Infancy
OMIM:160500	Myopathy, Distal, 1
OMIM:160565	Myopathy, Tubular Aggregate
OMIM:160570	Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
OMIM:160700	Myopia 2, Autosomal Dominant
OMIM:160750	Myositis
OMIM:160800	Myotonia Congenita, Autosomal Dominant
OMIM:160900	Myotonic Dystrophy 1
OMIM:160980	Carney Complex, Type 1
OMIM:160990	Myotonic Myopathy With Cylindrical Spirals
OMIM:161000	Naegeli Syndrome
OMIM:161050	Nail Disorder, Nonsyndromic Congenital, 1
OMIM:161070	Nail High-Sulfur Protein
OMIM:161080	Nail Low-Sulfur Protein
OMIM:161100	Nailbeds, Pigmentation Of
OMIM:161200	Nail-Patella Syndrome
OMIM:161400	Narcolepsy 1
OMIM:161470	Nasal Alar Collapse, Bilateral
OMIM:161480	Nasal Bones, Absence Of
OMIM:161500	Nasal Groove, Familial Transverse
OMIM:161530	Nasal Hyperpigmentation, Familial Transverse
OMIM:161550	Nasopharyngeal Carcinoma, Susceptibility To, 2
OMIM:161600	Navicular Bone, Accessory
OMIM:161700	Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
OMIM:161800	Nemaline Myopathy 3
OMIM:161900	Renal Failure, Progressive, With Hypertension
OMIM:161950	Iga Nephropathy, Susceptibility To, 1
OMIM:162000	Hyperuricemic Nephropathy, Familial Juvenile, 1
OMIM:162091	Schwannomatosis 1
OMIM:162100	Amyotrophy, Hereditary Neuralgic
OMIM:162200	Neurofibromatosis, Type I
OMIM:162210	Neurofibromatosis, Familial Spinal
OMIM:162240	Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
OMIM:162260	Neurofibromatosis, Type Iii, Mixed Central And Peripheral
OMIM:162270	Neurofibromatosis, Type Iv, Of Riccardi
OMIM:162300	Multiple Endocrine Neoplasia, Type Iib
OMIM:162350	Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
OMIM:162370	Neuropathy, Congenital, With Arthrogryposis Multiplex
OMIM:162380	Neuropathy, Hereditary Sensorimotor, With Upper Motor Neuron, Visual Pathway And Autonomic Disturbance
OMIM:162400	Neuropathy, Hereditary Sensory And Autonomic, Type Ia
OMIM:162500	Neuropathy, Hereditary, With Liability To Pressure Palsies
OMIM:162600	Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
OMIM:162700	Neutropenia, Chronic Familial
OMIM:162800	Cyclic Neutropenia
OMIM:162820	Neutrophil Migration
OMIM:162830	Neutrophilia, Hereditary
OMIM:162900	Nevus, Epidermal
OMIM:163000	Capillary Malformations, Congenital
OMIM:163050	Nevus Anemicus
OMIM:163100	Nevus Flammeus Of Nape Of Neck
OMIM:163200	Schimmelpenning-Feuerstein-Mims Syndrome
OMIM:163400	Nievergelt Syndrome
OMIM:163500	Night Blindness, Congenital Stationary, Autosomal Dominant 2
OMIM:163600	Nipples Inverted
OMIM:163700	Nipples, Supernumerary
OMIM:163800	Sick Sinus Syndrome 2, Autosomal Dominant
OMIM:163850	Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
OMIM:163950	Noonan Syndrome 1
OMIM:163955	Moved To 163950 And 610733
OMIM:164000	Nose, Anomalous Shape Of
OMIM:164100	Nystagmus 2, Congenital, Autosomal Dominant
OMIM:164150	Nystagmus, Hereditary Vertical
OMIM:164170	Nystagmus, Voluntary
OMIM:164180	Oculocerebrocutaneous Syndrome
OMIM:164185	Ocular Cicatricial Pemphigoid
OMIM:164190	Ocular Dominance
OMIM:164200	Oculodentodigital Dysplasia
OMIM:164210	Hemifacial Microsomia
OMIM:164220	Schilbach-Rott Syndrome
OMIM:164230	Obsessive-Compulsive Disorder
OMIM:164280	Feingold Syndrome 1
OMIM:164300	Oculopharyngeal Muscular Dystrophy
OMIM:164310	Oculopharyngodistal Myopathy
OMIM:164330	Odontoma-Dysphagia Syndrome
OMIM:164400	Spinocerebellar Ataxia 1
OMIM:164500	Spinocerebellar Ataxia 7
OMIM:164680	Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
OMIM:164700	Olivopontocerebellar Atrophy V
OMIM:164745	Omodysplasia 2
OMIM:164750	Omphalocele, Autosomal
OMIM:164800	Nail Disorder, Nonsyndromic Congenital, 5
OMIM:164900	Ophthalmomandibulomelic Dysplasia
OMIM:165000	Ophthalmoplegia, Familial Static
OMIM:165098	Ophthalmoplegia, Familial Total, With Iris Transillumination
OMIM:165150	Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
OMIM:165199	Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
OMIM:165200	Optic Atrophy With Demyelinating Disease Of Cns
OMIM:165300	Optic Atrophy 3, Autosomal Dominant
OMIM:165500	Optic Atrophy 1
OMIM:165510	Optic Atrophy With Negative Electroretinograms
OMIM:165550	Optic Nerve Hypoplasia, Bilateral
OMIM:165590	Orofaciodigital Syndrome X
OMIM:165600	Orbital Margin, Hypoplasia Of
OMIM:165660	Oslam Syndrome
OMIM:165670	Ossified Ear Cartilages
OMIM:165680	Ossicular Malformations, Familial
OMIM:165700	Thiemann Disease
OMIM:165720	Osteoarthritis Susceptibility 1
OMIM:165800	Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis
OMIM:166000	Enchondromatosis, Multiple, Ollier Type
OMIM:166200	Osteogenesis Imperfecta, Type I
OMIM:166210	Osteogenesis Imperfecta, Type Ii
OMIM:166220	Osteogenesis Imperfecta, Type Iv
OMIM:166230	Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
OMIM:166250	Osteoglophonic Dysplasia
OMIM:166260	Gnathodiaphyseal Dysplasia
OMIM:166300	Multicentric Carpotarsal Osteolysis Syndrome
OMIM:166350	Osseous Heteroplasia, Progressive
OMIM:166400	Osteomas Of Mandible
OMIM:166450	Osteomesopyknosis
OMIM:166600	Osteopetrosis, Autosomal Dominant 2
OMIM:166700	Buschke-Ollendorff Syndrome
OMIM:166705	Osteopoikilosis And Dacryocystitis
OMIM:166710	Osteoporosis
OMIM:166740	Osteosclerosis With Ichthyosis And Fractures
OMIM:166750	Otodental Dysplasia
OMIM:166760	Otitis Media, Susceptibility To
OMIM:166780	Otofaciocervical Syndrome 1
OMIM:166800	Otosclerosis 1
OMIM:166900	Ovalocytosis, Hereditary Hemolytic
OMIM:166910	Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
OMIM:166950	Teratoma, Ovarian
OMIM:166970	Ovarian Fibromata
OMIM:166990	Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
OMIM:167000	Ovarian Cancer
OMIM:167030	Nephrolithiasis, Calcium Oxalate
OMIM:167100	Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
OMIM:167200	Pachyonychia Congenita 1
OMIM:167210	Pachyonychia Congenita 2
OMIM:167220	Pacman Dysplasia
OMIM:167250	Paget Disease Of Bone 1
OMIM:167300	Paget Disease, Extramammary
OMIM:167320	Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
OMIM:167400	Paroxysmal Extreme Pain Disorder
OMIM:167500	Palatopharyngeal Incompetence
OMIM:167600	Palmaris Longus Muscle, Absence Of
OMIM:167700	Palmomental Reflex
OMIM:167730	Palpebral Coloboma-Lipoma Syndrome
OMIM:167750	Pancreas, Annular
OMIM:167755	Pancreas, Dorsal, Agenesis Of
OMIM:167770	Regenerating Islet-Derived 1-Alpha
OMIM:167800	Pancreatitis, Hereditary
OMIM:167850	Pancytopenia And Occlusive Vascular Disease
OMIM:167870	Panic Disorder 1
OMIM:167900	Papillomatosis, Confluent And Reticulated
OMIM:167950	Papillomatosis, Florid, Of Nipple
OMIM:168000	Paragangliomas 1
OMIM:168100	Paralysis Agitans, Juvenile, Of Hunt
OMIM:168200	Paramolar Tubercle Of Bolk
OMIM:168300	Paramyotonia Congenita Of Von Eulenburg
OMIM:168400	Parastremmatic Dwarfism
OMIM:168500	Parietal Foramina
OMIM:168550	Parietal Foramina With Cleidocranial Dysplasia
OMIM:168600	Parkinson Disease, Late-Onset
OMIM:168601	Parkinson Disease 1, Autosomal Dominant
OMIM:168605	Perry Syndrome
OMIM:168800	Parotidomegaly, Hereditary Bilateral
OMIM:168820	Paraoxonase 1
OMIM:168830	Passovoy Factor Defect
OMIM:168850	Patella Aplasia, Coxa Vara, And Tarsal Synostosis
OMIM:168860	Patella Aplasia-Hypoplasia
OMIM:168885	Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
OMIM:168900	Patella, Chondromalacia Of
OMIM:169000	Patella, Familial Recurrent Dislocation Of
OMIM:169100	Char Syndrome
OMIM:169150	Patterned Dystrophy Of Retinal Pigment Epithelium
OMIM:169170	Patterson Pseudoleprechaunism Syndrome
OMIM:169200	Pechet Factor Deficiency
OMIM:169300	Pectus Excavatum
OMIM:169400	Pelger-Huet Anomaly
OMIM:169500	Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
OMIM:169545	Pelvic Lipomatosis With Crossed Renal Ectopia
OMIM:169550	Pelvis-Shoulder Dysplasia
OMIM:169600	Benign Chronic Pemphigus
OMIM:169610	Pemphigus Vulgaris, Familial
OMIM:170100	Prolidase Deficiency
OMIM:170390	Andersen Cardiodysrhythmic Periodic Paralysis
OMIM:170400	Hypokalemic Periodic Paralysis, Type 1
OMIM:170500	Hyperkalemic Periodic Paralysis
OMIM:170600	Normokalemic Periodic Paralysis
OMIM:170650	Periodontitis, Aggressive, 1
OMIM:170700	Peripheral Dysostosis
OMIM:170900	Pernicious Anemia
OMIM:170980	Peroneal Nerve, Accessory Deep
OMIM:170995	Atp-Binding Cassette, Subfamily D, Member 3
OMIM:171000	Peyronie Disease
OMIM:171100	Phagocytosis, Plasma-Related Defect In
OMIM:171200	Thiourea Tasting
OMIM:171300	Pheochromocytoma
OMIM:171400	Multiple Endocrine Neoplasia, Type Iia
OMIM:171420	Pheochromocytoma--Islet Cell Tumor Syndrome
OMIM:171450	Phlebectasia Of Lips
OMIM:171480	Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
OMIM:171720	Alkaline Phosphatase, Plasma Level Of, Quantitative Trait Locus 1
OMIM:172150	6-Phosphogluconolactonase Deficiency
OMIM:172200	6-Phosphogluconate Dehydrogenase, Erythrocyte
OMIM:172500	Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
OMIM:172700	Pick Disease Of Brain
OMIM:172800	Piebald Trait
OMIM:172850	Piebald Trait With Neurologic Defects
OMIM:172870	Pigmented Paravenous Chorioretinal Atrophy
OMIM:172880	Pierre Robin Syndrome And Oligodactyly
OMIM:172900	Pigmented Purpuric Eruption
OMIM:173000	Pilonidal Sinus
OMIM:173100	Isolated Growth Hormone Deficiency, Type Ii
OMIM:173200	Pityriasis Rubra Pilaris
OMIM:173400	Platelet Aggregation, Spontaneous
OMIM:173420	Platelet Disorder, Undefined
OMIM:173450	Platelet Factor 3 Deficiency
OMIM:173470	Integrin, Beta-3
OMIM:173580	Platelet Responsiveness To Adrenaline, Depressed
OMIM:173590	Platelet Signal Processing Defect
OMIM:173600	Pneumothorax, Primary Spontaneous
OMIM:173650	Kindler Syndrome
OMIM:173700	Poikiloderma, Hereditary Sclerosing
OMIM:173800	Poland Syndrome
OMIM:173850	Poliovirus Receptor
OMIM:173900	Polycystic Kidney Disease 1
OMIM:174000	Medullary Cystic Kidney Disease 1
OMIM:174050	Polycystic Liver Disease
OMIM:174200	Polydactyly, Postaxial, Type A1
OMIM:174300	Orofaciodigital Syndrome V
OMIM:174310	Polydactyly, Postaxial, With Progressive Myopia
OMIM:174400	Polydactyly, Preaxial I
OMIM:174500	Polydactyly, Preaxial Ii
OMIM:174600	Polydactyly, Preaxial Iii
OMIM:174700	Polydactyly, Preaxial Iv
OMIM:174770	Actinic Prurigo
OMIM:174800	Mccune-Albright Syndrome
OMIM:174810	Familial Expansile Osteolysis
OMIM:174900	Juvenile Polyposis Syndrome
OMIM:175020	Polyposis, Gastric
OMIM:175050	Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
OMIM:175100	Familial Adenomatous Polyposis 1
OMIM:175200	Peutz-Jeghers Syndrome
OMIM:175400	Polyposis, Intestinal, Scattered And Discrete
OMIM:175450	Polyposis, Intestinal, With Multiple Exostoses
OMIM:175500	Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
OMIM:175505	Polyposis Of Gastric Fundus Without Polyposis Coli
OMIM:175510	Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
OMIM:175690	Polysyndactyly, Crossed
OMIM:175700	Greig Cephalopolysyndactyly Syndrome
OMIM:175750	Popliteal Cyst
OMIM:175780	Porencephaly 1
OMIM:175800	Porokeratosis 1, Mibelli Type
OMIM:175850	Porokeratosis 2, Palmar, Plantar, And Disseminated Type
OMIM:175860	Palmoplantar Keratoderma, Punctate Type Ii
OMIM:175900	Porokeratosis 3, Disseminated Superficial Actinic Type
OMIM:176000	Porphyria, Acute Intermittent
OMIM:176090	Porphyria Cutanea Tarda, Type I
OMIM:176100	Porphyria Cutanea Tarda
OMIM:176200	Porphyria Variegata
OMIM:176240	Postaxial Oligodactyly, Tetramelic
OMIM:176250	Posterior Column Ataxia
OMIM:176270	Prader-Willi Syndrome
OMIM:176305	Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
OMIM:176310	Pre-B-Cell Leukemia Transcription Factor 1
OMIM:176385	Pregnancy-Associated Plasma Protein A
OMIM:176390	Pregnancy-Specific Beta-1-Glycoprotein 1
OMIM:176400	Precocious Puberty, Central, 1
OMIM:176410	Precocious Puberty, Male-Limited
OMIM:176430	Premature Chromatid Separation Trait
OMIM:176450	Currarino Syndrome
OMIM:176500	Cerebral Amyloid Angiopathy, Itm2b-Related, 1
OMIM:176600	Presenile Dementia, Kraepelin Type
OMIM:176620	Priapism, Familial Idiopathic
OMIM:176630	Primary Release Disorder Of Platelets
OMIM:176670	Hutchinson-Gilford Progeria Syndrome
OMIM:176690	Progeroid Short Stature With Pigmented Nevi
OMIM:176700	Prognathism, Mandibular
OMIM:176705	Prohibitin
OMIM:176780	Pelvic Organ Prolapse, Susceptibility To
OMIM:176790	Procollagen-Proline, 2-Oxoglutarate-4-Dioxygenase, Beta Subunit
OMIM:176800	Pronation-Supination Of The Forearm, Impairment Of
OMIM:176807	Prostate Cancer
OMIM:176860	Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
OMIM:176873	Cyclin-Dependent Kinase 11b
OMIM:176920	Proteus Syndrome
OMIM:176947	Zeta-Chain-Associated Protein Kinase
OMIM:176960	Protein Kinase C, Alpha
OMIM:177000	Protoporphyria, Erythropoietic
OMIM:177050	Protrusio Acetabuli
OMIM:177100	Pruritus, Hereditary Localized
OMIM:177170	Pseudoachondroplasia
OMIM:177200	Liddle Syndrome
OMIM:177300	Pseudoarthrogryposis
OMIM:177350	Pseudoatrophoderma Colli
OMIM:177400	Butyrylcholinesterase
OMIM:177600	Pseudocholinesterase, Increase In Plasma Level Of
OMIM:177650	Exfoliation Syndrome
OMIM:177700	Glaucoma 1, Open Angle, P
OMIM:177720	Moved To 194380
OMIM:177735	Pseudohypoaldosteronism, Type I, Autosomal Dominant
OMIM:177820	Pseudo-Von Willebrand Disease
OMIM:177850	Pseudoxanthoma Elasticum, Forme Fruste
OMIM:177900	Psoriasis Susceptibility 1
OMIM:177980	Pterygia, Mental Retardation, And Distinctive Craniofacial Features
OMIM:177990	Pterygium Colli, Isolated
OMIM:178000	Pterygium Of Conjunctiva And Cornea
OMIM:178110	Arthrogryposis, Distal, Type 8
OMIM:178200	Pterygium, Antecubital
OMIM:178300	Ptosis, Hereditary Congenital 1
OMIM:178330	Ptosis, Strabismus, And Ectopic Pupils
OMIM:178350	Pubic Bone Dysplasia
OMIM:178370	Pulmonary Atresia With Ventricular Septal Defect
OMIM:178400	Pulmonary Edema Of Mountaineers
OMIM:178500	Pulmonary Fibrosis, Idiopathic
OMIM:178550	Pulmonary Hemosiderosis
OMIM:178600	Pulmonary Hypertension, Primary, 1
OMIM:178610	Pulmonary Nodular Lymphoid Hyperplasia, Familial
OMIM:178635	Surfactant, Pulmonary-Associated Protein D
OMIM:178650	Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
OMIM:178651	Pulmonic Stenosis And Deafness
OMIM:178800	Pupil, Egg-Shaped
OMIM:178900	Pupillary Membrane, Persistence Of
OMIM:178995	Pruritic Urticarial Papules And Plaques Of Pregnancy
OMIM:179000	Purpura Simplex
OMIM:179010	Pyloric Stenosis, Infantile Hypertrophic, 1
OMIM:179200	Radial Heads, Posterior Dislocation Of
OMIM:179250	Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
OMIM:179270	Radial Ray Hypoplasia With Choanal Atresia
OMIM:179280	Radial-Renal Syndrome
OMIM:179300	Radioulnar Synostosis
OMIM:179400	Radius, Aplasia Of, With Cleft Lip/Palate
OMIM:179450	Ragweed Sensitivity
OMIM:179500	Raindrop Hypopigmentation
OMIM:179600	Raynaud Disease
OMIM:179613	Recombinant Chromosome 8 Syndrome
OMIM:179618	Recoverin
OMIM:179650	Red Cell Permeability Defect
OMIM:179700	Red Cell Phospholipid Defect With Hemolysis
OMIM:179760	Moved To 144700
OMIM:179770	Moved To 144700
OMIM:179780	Dipeptidase 1
OMIM:179800	Renal Tubular Acidosis, Distal, Autosomal Dominant
OMIM:179820	Renin
OMIM:179830	Renal Tubular Acidosis, Proximal
OMIM:179840	Reticular Dystrophy Of Retinal Pigment Epithelium
OMIM:179850	Dowling-Degos Disease 1
OMIM:179900	Retinal Aplasia
OMIM:180000	Retinal Arteries, Tortuosity Of
OMIM:180020	Retinal Cone Dystrophy 1
OMIM:180050	Retinal Detachment
OMIM:180070	Retinal Nonattachment And Falciform Detachment
OMIM:180080	Retinal Venous Beading
OMIM:180100	Retinitis Pigmentosa 1
OMIM:180104	Retinitis Pigmentosa 9
OMIM:180105	Retinitis Pigmentosa 10
OMIM:180200	Retinoblastoma
OMIM:180210	Retinopathy, Pericentral Pigmentary, Dominant
OMIM:180270	Retinoschisis, Autosomal Dominant
OMIM:180300	Rheumatoid Arthritis
OMIM:180350	Rheumatoid Nodulosis
OMIM:180360	Rhiny
OMIM:180370	Thiosulfate Sulfurtransferase
OMIM:180500	Axenfeld-Rieger Syndrome, Type 1
OMIM:180550	Ring Dermoid Of Cornea
OMIM:180600	Ringed Hair
OMIM:180700	Robinow Syndrome, Autosomal Dominant
OMIM:180721	Rod Outer Segment Protein 1
OMIM:180730	Rombo Syndrome
OMIM:180750	Robinow-Sorauf Syndrome
OMIM:180800	Roussy-Levy Hereditary Areflexic Dystasia
OMIM:180849	Rubinstein-Taybi Syndrome 1
OMIM:180860	Silver-Russell Syndrome
OMIM:180870	Ruvalcaba Syndrome
OMIM:180900	Rutherfurd Syndrome
OMIM:180920	Aplasia Of Lacrimal And Salivary Glands
OMIM:181000	Sarcoidosis, Susceptibility To, 1
OMIM:181010	Salivary Duct Calculi
OMIM:181030	Salivary Gland Adenoma, Pleomorphic
OMIM:181180	Say Syndrome
OMIM:181250	Scalp Defects And Postaxial Polydactyly
OMIM:181270	Scalp-Ear-Nipple Syndrome
OMIM:181300	Scapula, Contour Of Vertebral Border Of
OMIM:181350	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
OMIM:181400	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
OMIM:181405	Scapuloperoneal Spinal Muscular Atrophy
OMIM:181430	Scapuloperoneal Myopathy, Myh7-Related
OMIM:181440	Scheuermann Disease
OMIM:181450	Ulnar-Mammary Syndrome
OMIM:181460	Schistosoma Mansoni Infection, Susceptibility/Resistance To
OMIM:181500	Schizophrenia
OMIM:181510	Schizophrenia 1
OMIM:181515	Scholte Syndrome
OMIM:181600	Sclerotylosis
OMIM:181700	Sclerocornea, Autosomal Dominant
OMIM:181750	Scleroderma, Familial Progressive
OMIM:181800	Scoliosis, Idiopathic, Susceptibility To, 1
OMIM:182000	Keratosis, Seborrheic
OMIM:182150	Simosa Craniofacial Syndrome
OMIM:182170	Anemia, Sideroblastic, Autosomal Dominant
OMIM:182190	Sinus Node Disease And Myopia
OMIM:182200	Sella Turcica, Bridged
OMIM:182210	Shprintzen Omphalocele Syndrome
OMIM:182212	Shprintzen-Goldberg Craniosynostosis Syndrome
OMIM:182230	Septooptic Dysplasia
OMIM:182250	Singleton-Merten Syndrome
OMIM:182255	Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
OMIM:182257	Proteinase Inhibitor 3
OMIM:182260	Slipped Femoral Capital Epiphyses
OMIM:182280	Small Cell Cancer Of The Lung
OMIM:182290	Smith-Magenis Syndrome
OMIM:182410	Sneddon Syndrome
OMIM:182600	Spastic Paraplegia 3, Autosomal Dominant
OMIM:182601	Spastic Paraplegia 4, Autosomal Dominant
OMIM:182610	Spastic Paraplegia, Epilepsy, And Mental Retardation
OMIM:182690	Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
OMIM:182800	Spastic Paraplegia With Associated Extrapyramidal Signs
OMIM:182815	Spastic Paraplegia With Neuropathy And Poikiloderma
OMIM:182820	Spastic Paraplegia With Precocious Puberty
OMIM:182830	Spastic Paraplegia, Optic Atrophy, And Dementia
OMIM:182870	Spectrin, Beta, Erythrocytic
OMIM:182875	Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
OMIM:182900	Spherocytosis, Type 1
OMIM:182920	Myopathy, Spheroid Body
OMIM:182940	Neural Tube Defects
OMIM:182950	Spinal Arachnoiditis
OMIM:182960	Neuronopathy, Distal Hereditary Motor, Type I
OMIM:182970	Spinal Muscular Atrophy, Facioscapulohumeral Type
OMIM:182980	Spinal Muscular Atrophy, Late-Onset, Finkel Type
OMIM:182990	Spinal Intradural Arachnoid Cysts
OMIM:183000	Moved To 137440
OMIM:183020	Spinal Muscular Atrophy, Segmental
OMIM:183050	Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
OMIM:183086	Spinocerebellar Ataxia 6
OMIM:183090	Spinocerebellar Ataxia 2
OMIM:183100	Spinocerebellar Atrophy With Pupillary Paralysis
OMIM:183300	Splenogonadal Fusion With Limb Defects And Micrognathia
OMIM:183350	Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells
OMIM:183400	Split Lower Lip
OMIM:183500	Split-Hand And Split-Foot With Hypodontia
OMIM:183600	Split-Hand/Foot Malformation 1
OMIM:183700	Split-Foot Deformity With Mandibulofacial Dysostosis
OMIM:183800	Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
OMIM:183802	Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
OMIM:183840	Spondyloarthropathy, Susceptibility To, 2
OMIM:183849	Spondyloepimetaphyseal Dysplasia With Hypotrichosis
OMIM:183850	Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
OMIM:183900	Spondyloepiphyseal Dysplasia Congenita
OMIM:184000	Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
OMIM:184095	Spondyloepiphyseal Dysplasia, Maroteaux Type
OMIM:184100	Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
OMIM:184200	Spondylolisthesis
OMIM:184250	Spondyloepimetaphyseal Dysplasia, Strudwick Type
OMIM:184252	Spondylometaphyseal Dysplasia, Kozlowski Type
OMIM:184253	Spondylometaphyseal Dysplasia, Algerian Type
OMIM:184255	Spondylometaphyseal Dysplasia, Corner Fracture Type
OMIM:184260	Spondylometaphyseal Dysplasia With Dentinogenesis Imperfecta
OMIM:184300	Spondylosis, Cervical
OMIM:184400	Sprengel Deformity
OMIM:184450	Stuttering, Familial Persistent, 1
OMIM:184460	Stapes Ankylosis With Broad Thumb And Toes
OMIM:184500	Steatocystoma Multiplex
OMIM:184510	Steatocystoma Multiplex With Natal Teeth
OMIM:184700	Polycystic Ovary Syndrome 1
OMIM:184705	Steinfeld Syndrome
OMIM:184800	Sternum, Premature Obliteration Of Sutures Of
OMIM:184840	Stickler Syndrome, Type Iii
OMIM:184850	Stiff-Person Syndrome
OMIM:184900	Stiff Skin Syndrome
OMIM:185000	Overhydrated Hereditary Stomatocytosis
OMIM:185010	Moved To 194380
OMIM:185020	Pseudohyperkalemia Cardiff
OMIM:185050	Storage Pool Platelet Disease
OMIM:185069	Storm Syndrome
OMIM:185070	Stormorken Syndrome
OMIM:185100	Strabismus, Susceptibility To
OMIM:185120	Stratton-Parker Syndrome
OMIM:185200	Striae Distensae, Familial
OMIM:185300	Sturge-Weber Syndrome
OMIM:185460	Sulfhemoglobinemia, Congenital
OMIM:185480	Suprabulbar Paresis, Congenital
OMIM:185500	Supravalvular Aortic Stenosis
OMIM:185600	Symphalangism Of Toes
OMIM:185650	Symphalangism, C. S. Lewis Type
OMIM:185700	Symphalangism, Distal
OMIM:185750	Symphalangism With Multiple Anomalies Of Hands And Feet
OMIM:185800	Symphalangism, Proximal, 1a
OMIM:185900	Chromosome 2q35 Duplication Syndrome
OMIM:186000	Synpolydactyly 1
OMIM:186100	Syndactyly, Type Iii
OMIM:186200	Syndactyly, Type Iv
OMIM:186300	Syndactyly, Type V
OMIM:186350	Syndactyly-Polydactyly-Earlobe Syndrome
OMIM:186400	Synostoses, Tarsal, Carpal, And Digital
OMIM:186500	Multiple Synostoses Syndrome 1
OMIM:186550	Liebenberg Syndrome
OMIM:186570	Tarsal-Carpal Coalition Syndrome
OMIM:186575	Synovial Chondromatosis, Familial, With Dwarfism
OMIM:186580	Blau Syndrome
OMIM:186600	Syringomas, Multiple
OMIM:186700	Syringomyelia, Isolated
OMIM:186740	Cd3 Antigen, Gamma Subunit
OMIM:186750	Talonavicular Coalition
OMIM:186770	T-Cell Leukemia, Homeobox 1
OMIM:186830	Cd3 Antigen, Epsilon Subunit
OMIM:186850	Tarsal Coalition
OMIM:186860	T-Cell Leukemia/Lymphoma 4
OMIM:186960	T-Cell Leukemia/Lymphoma 1a
OMIM:187000	Teeth, Odd Shapes Of
OMIM:187040	T-Cell Acute Lymphocytic Leukemia 1
OMIM:187050	Teeth Present At Birth
OMIM:187100	Teeth, Supernumerary
OMIM:187260	Telangiectasia, Hereditary Benign
OMIM:187300	Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber
OMIM:187350	Telecanthus
OMIM:187360	Temporal Arteritis
OMIM:187370	Arthrogryposis, Distal, Type 10
OMIM:187390	Tendons, Extensor, Of Fingers, Anomalous Insertion Of
OMIM:187400	Testicular Torsion
OMIM:187500	Tetralogy Of Fallot
OMIM:187501	Tetralogy Of Fallot And Glaucoma
OMIM:187510	Tetramelic Monodactyly
OMIM:187550	Thalassemia, Beta+, Silent Allele
OMIM:187600	Thanatophoric Dysplasia, Type I
OMIM:187601	Thanatophoric Dysplasia, Type Ii
OMIM:187650	Theophylline Biotransformation
OMIM:187750	Thoracic Dysostosis, Isolated
OMIM:187760	Thoracolaryngopelvic Dysplasia
OMIM:187770	Thoracopelvic Dysostosis
OMIM:187800	Bleeding Disorder, Platelet-Type, 16
OMIM:187900	Bleeding Disorder, Platelet-Type, 17
OMIM:187950	Thrombocythemia 1
OMIM:188000	Thrombocytopenia 2
OMIM:188020	Thrombocytopenia, Cyclic
OMIM:188025	Thrombocytopenia, Paris-Trousseau Type
OMIM:188030	Thrombocytopenic Purpura, Autoimmune
OMIM:188050	Thrombophilia Due To Thrombin Defect
OMIM:188055	Thrombophilia Due To Activated Protein C Resistance
OMIM:188100	Thumb Deformity
OMIM:188150	Thumb Deformity And Alopecia
OMIM:188200	Moved To 107000
OMIM:188201	Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
OMIM:188400	Digeorge Syndrome
OMIM:188470	Thyroid Carcinoma, Follicular
OMIM:188550	Thyroid Carcinoma, Papillary
OMIM:188560	Thyroid Hormone Plasma Membrane Transport Defect
OMIM:188570	Thyroid Hormone Resistance, Generalized, Autosomal Dominant
OMIM:188580	Thyrotoxic Periodic Paralysis, Susceptibility To, 1
OMIM:188600	Moved To 314200
OMIM:188700	Blount Disease, Infantile
OMIM:188740	Tibia, Absence Of, With Polydactyly
OMIM:188770	Tibia, Hypoplasia Of, With Polydactyly
OMIM:188800	Tibial Torsion, Bilateral Medial
OMIM:189000	Toe, Fifth, Number Of Phalanges In
OMIM:189100	Toe, Misshapen
OMIM:189150	Toe, Rotated Fifth
OMIM:189200	Toes, Relative Length Of First And Second
OMIM:189230	Toes, Space Between First And Second
OMIM:189300	Tongue Curling, Folding, Or Rolling
OMIM:189490	Malposition Of Teeth With Or Without Hypodontia/Oligodontia
OMIM:189500	Witkop Syndrome
OMIM:189600	Torticollis
OMIM:189700	Torus Palatinus And Torus Mandibularis
OMIM:189800	Preeclampsia/Eclampsia 1
OMIM:189960	Tracheoesophageal Fistula With Or Without Esophageal Atresia
OMIM:189961	Tracheopathia Osteoplastica
OMIM:189980	Abelson Murine Leukemia Viral Oncogene Homolog 1
OMIM:189990	V-Myb Avian Myeloblastosis Viral Oncogene Homolog
OMIM:190100	Geniospasm 1
OMIM:190200	Tremor Of Intention, Ataxia, And Lipofuscinosis
OMIM:190300	Tremor, Hereditary Essential, 1
OMIM:190310	Tremor, Nystagmus, And Duodenal Ulcer
OMIM:190320	Trichodentoosseous Syndrome
OMIM:190330	Trichomegaly
OMIM:190340	Discoid Fibromas, Familial Multiple
OMIM:190345	Trichoepitheliomas, Multiple Desmoplastic
OMIM:190350	Trichorhinophalangeal Syndrome, Type I
OMIM:190351	Trichorhinophalangeal Syndrome, Type Iii
OMIM:190360	Trichodysplasia-Xeroderma
OMIM:190400	Trigeminal Neuralgia
OMIM:190410	Trigger Thumb
OMIM:190420	Triglyceride Storage Disease, Type I
OMIM:190430	Triglyceride Storage Disease, Type Ii
OMIM:190440	Trigonocephaly 1
OMIM:190500	Triphalangeal Thumb With Double Phalanges
OMIM:190600	Triphalangeal Thumb, Nonopposable
OMIM:190650	Triphalangeal Thumbs And Dislocation Of Patella
OMIM:190680	Triphalangeal Thumbs With Brachyectrodactyly
OMIM:190685	Down Syndrome
OMIM:190800	Tristichiasis
OMIM:190900	Tritanopia
OMIM:190920	Trophoblast Glycoprotein
OMIM:191000	Trochlea Of The Humerus, Aplasia Of
OMIM:191020	Moved To 120920
OMIM:191090	Moved To 191100
OMIM:191091	Moved To 191100
OMIM:191100	Tuberous Sclerosis 1
OMIM:191150	Tuftsin Deficiency
OMIM:191160	Tumor Necrosis Factor
OMIM:191200	Tune Deafness
OMIM:191250	Twinning Due To Superfetation
OMIM:191390	Inflammatory Bowel Disease 11
OMIM:191400	Ulna And Fibula, Hypoplasia Of
OMIM:191420	Ulna Metaphyseal Dysplasia Syndrome
OMIM:191440	Ulnar Hypoplasia
OMIM:191480	Uncombable Hair Syndrome
OMIM:191482	Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
OMIM:191500	Undritz Anomaly
OMIM:191520	Upington Disease
OMIM:191530	Urate-Binding Globulin, Decrease In
OMIM:191540	Urate Oxidase, Pseudogene
OMIM:191550	Ureter, Bifid Or Double
OMIM:191600	Ureter, Cancer Of
OMIM:191650	Ureterocele
OMIM:191700	Urolithiasis, Uric Acid, Autosomal Dominant
OMIM:191800	Urinary Bladder, Atony Of
OMIM:191830	Renal Hypodysplasia/Aplasia 1
OMIM:191850	Urticaria, Aquagenic
OMIM:191900	Muckle-Wells Syndrome
OMIM:191950	Urticaria, Familial Localized Heat
OMIM:192000	Uterine Anomalies
OMIM:192050	Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
OMIM:192100	Uvula, Bifid
OMIM:192200	Varicose Veins
OMIM:192310	Vasculitis, Lymphocytic, Nodular
OMIM:192315	Vasculopathy, Retinal, With Cerebral Leukodystrophy
OMIM:192350	Vater Association
OMIM:192430	Velocardiofacial Syndrome
OMIM:192445	Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
OMIM:192500	Long Qt Syndrome 1
OMIM:192600	Cardiomyopathy, Familial Hypertrophic, 1
OMIM:192605	Ventricular Tachycardia, Familial
OMIM:192700	Venular Insufficiency, Systemic
OMIM:192800	Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
OMIM:192900	Vertebral Hypoplasia With Lumbar Kyphosis
OMIM:192950	Vertical Talus, Congenital
OMIM:193000	Vesicoureteral Reflux 1
OMIM:193003	Nystagmus 4, Congenital, Autosomal Dominant
OMIM:193005	Vestibulocochlear Dysfunction, Progressive
OMIM:193007	Vertigo, Benign Recurrent
OMIM:193050	Vibratory Angioedema
OMIM:193090	Transcobalamin I Deficiency
OMIM:193100	Hypophosphatemic Rickets, Autosomal Dominant
OMIM:193200	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
OMIM:193220	Vitreoretinochoroidopathy
OMIM:193230	Vitreoretinal Degeneration, Snowflake Type
OMIM:193235	Vitreoretinopathy, Neovascular Inflammatory
OMIM:193240	Vocal Cord Paralysis And Ptosis
OMIM:193250	Volvulus Of Midgut
OMIM:193300	Von Hippel-Lindau Syndrome
OMIM:193400	Von Willebrand Disease, Type 1
OMIM:193450	Vulvovaginitis, Allergic Seminal
OMIM:193500	Waardenburg Syndrome, Type 1
OMIM:193510	Waardenburg Syndrome, Type 2a
OMIM:193520	Watson Syndrome
OMIM:193530	Weyers Acrofacial Dysostosis
OMIM:193670	Whim Syndrome
OMIM:193680	Moved To 128101
OMIM:193700	Arthrogryposis, Distal, Type 2a
OMIM:193900	White Sponge Nevus
OMIM:194000	Widow'S Peak
OMIM:194050	Williams-Beuren Syndrome
OMIM:194070	Wilms Tumor 1
OMIM:194071	Wilms Tumor 2
OMIM:194072	Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
OMIM:194080	Denys-Drash Syndrome
OMIM:194090	Wilms Tumor 3
OMIM:194100	Moved To 106600
OMIM:194190	Wolf-Hirschhorn Syndrome
OMIM:194200	Wolff-Parkinson-White Syndrome
OMIM:194300	Woolly Hair, Autosomal Dominant
OMIM:194320	Woronets Trait
OMIM:194350	Wt Limb-Blood Syndrome
OMIM:194380	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
OMIM:194400	Xeroderma Pigmentosum, Autosomal Dominant, Mild
OMIM:194470	Zinc, Elevated Plasma
OMIM:194533	Zinc Finger Protein 35
OMIM:200100	Abetalipoproteinemia
OMIM:200110	Ablepharon-Macrostomia Syndrome
OMIM:200130	Absent Eyebrows And Eyelashes With Mental Retardation
OMIM:200150	Choreoacanthocytosis
OMIM:200170	Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
OMIM:200300	Acetophenetidin Sensitivity
OMIM:200400	Achalasia, Familial Esophageal
OMIM:200450	Achalasia-Microcephaly Syndrome
OMIM:200500	Acheiropody
OMIM:200600	Achondrogenesis, Type Ia
OMIM:200610	Achondrogenesis, Type Ii
OMIM:200700	Chondrodysplasia, Grebe Type
OMIM:200900	Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
OMIM:200950	Acid Phosphatase Deficiency
OMIM:200970	Ackerman Syndrome
OMIM:200980	Acrorenal-Mandibular Syndrome
OMIM:200990	Acrocallosal Syndrome
OMIM:200995	Acrocephalopolydactylous Dysplasia
OMIM:201000	Carpenter Syndrome 1
OMIM:201020	Acrocephalopolysyndactyly Type Iv
OMIM:201050	Acrocraniofacial Dysostosis
OMIM:201100	Acrodermatitis Enteropathica, Zinc-Deficiency Type
OMIM:201170	Acrofacial Dysostosis Syndrome Of Rodriguez
OMIM:201180	Acrofrontofacionasal Dysostosis 1
OMIM:201200	Acrogeria, Gottron Type
OMIM:201250	Acromesomelic Dysplasia, Hunter-Thompson Type
OMIM:201300	Neuropathy, Hereditary Sensory And Autonomic, Type Iia
OMIM:201310	Acrorenal Syndrome, Autosomal Recessive
OMIM:201400	Acth Deficiency, Isolated
OMIM:201450	Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
OMIM:201460	Moved To 201475
OMIM:201470	Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
OMIM:201475	Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
OMIM:201550	Adducted Thumbs Syndrome
OMIM:201710	Lipoid Congenital Adrenal Hyperplasia
OMIM:201750	Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
OMIM:201810	3-Beta-Hydroxysteroid Dehydrogenase, Type Ii, Deficiency Of
OMIM:201910	Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
OMIM:202010	Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
OMIM:202110	Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
OMIM:202150	Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
OMIM:202155	Adrenal Hypoplasia, Cytomegalic Type
OMIM:202200	Glucocorticoid Deficiency 1
OMIM:202300	Adrenocortical Carcinoma, Hereditary
OMIM:202355	Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
OMIM:202370	Peroxisome Biogenesis Disorder 2b
OMIM:202400	Afibrinogenemia, Congenital
OMIM:202550	Aganglionosis, Total Intestinal
OMIM:202600	Agenesis Of Cerebral White Matter
OMIM:202650	Agnathia-Otocephaly Complex
OMIM:202660	Pagod Syndrome
OMIM:202700	Neutropenia, Severe Congenital, 1, Autosomal Dominant
OMIM:202900	Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
OMIM:203000	Frontonasal Dysplasia With Alar Clefts
OMIM:203100	Albinism, Oculocutaneous, Type Ia
OMIM:203200	Albinism, Oculocutaneous, Type Ii
OMIM:203290	Albinism, Oculocutaneous, Type Iii
OMIM:203300	Hermansky-Pudlak Syndrome 1
OMIM:203330	Pseudohypoparathyroidism, Type Ii
OMIM:203340	Albinism-Microcephaly-Digital Anomalies Syndrome
OMIM:203400	Corticosterone Methyloxidase Type I Deficiency
OMIM:203450	Alexander Disease
OMIM:203500	Alkaptonuria
OMIM:203550	Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
OMIM:203600	Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
OMIM:203650	Alopecia-Mental Retardation Syndrome 1
OMIM:203655	Alopecia Universalis Congenita
OMIM:203700	Mitochondrial Dna Depletion Syndrome 4a (Alpers Type)
OMIM:203740	Alpha-Ketoglutarate Dehydrogenase Deficiency
OMIM:203750	Alpha-Methylacetoacetic Aciduria
OMIM:203760	Alpha-2-Deficient Collagen Disease
OMIM:203780	Alport Syndrome, Autosomal Recessive
OMIM:203800	Alstrom Syndrome
OMIM:204000	Leber Congenital Amaurosis 1
OMIM:204100	Leber Congenital Amaurosis 2
OMIM:204110	Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
OMIM:204200	Ceroid Lipofuscinosis, Neuronal, 3
OMIM:204300	Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
OMIM:204500	Ceroid Lipofuscinosis, Neuronal, 2
OMIM:204650	Amelogenesis Imperfecta, Type Ic
OMIM:204690	Enamel-Renal Syndrome
OMIM:204700	Amelogenesis Imperfecta, Hypomaturation Type, Iia1
OMIM:204730	Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
OMIM:204750	2-Aminoadipic 2-Oxoadipic Aciduria
OMIM:204800	Amobarbital, Deficient N-Hydroxylation Of
OMIM:204850	Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
OMIM:204870	Corneal Dystrophy, Gelatinous Drop-Like
OMIM:204900	Amyloidosis, Cutaneous Bullous
OMIM:205000	Amyotonia Congenita
OMIM:205100	Amyotrophic Lateral Sclerosis 2, Juvenile
OMIM:205200	Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
OMIM:205250	Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
OMIM:205400	Tangier Disease
OMIM:205700	Anemia, Autoimmune Hemolytic
OMIM:205950	Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
OMIM:206000	Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
OMIM:206100	Anemia, Hypochromic Microcytic, With Iron Overload 1
OMIM:206200	Iron-Refractory Iron Deficiency Anemia
OMIM:206300	Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
OMIM:206400	Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
OMIM:206500	Anencephaly
OMIM:206550	Angiolipomatosis, Familial
OMIM:206570	Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
OMIM:206600	Anhidrosis
OMIM:206700	Aniridia, Cerebellar Ataxia, And Mental Retardation
OMIM:206750	Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
OMIM:206780	Anodontia Of Permanent Dentition
OMIM:206800	Nail Disorder, Nonsyndromic Congenital, 4
OMIM:206900	Microphthalmia, Syndromic 3
OMIM:206920	Microphthalmia With Limb Anomalies
OMIM:207000	Anosmia For Isobutyric Acid
OMIM:207300	Antithrombin, Familial Hemorrhagic Diathesis Due To
OMIM:207410	Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
OMIM:207500	Anus, Imperforate
OMIM:207600	Takayasu Arteritis
OMIM:207620	Aphalangy With Hemivertebrae
OMIM:207720	Apnea, Central Sleep
OMIM:207731	Aplasia Cutis Congenita With Intestinal Lymphangiectasia
OMIM:207740	Aplasia Of Extensor Muscles Of Fingers, Unilateral, With Generalized Polyneuropathy
OMIM:207750	Apolipoprotein C-Ii Deficiency
OMIM:207770	Aprosencephaly Syndrome
OMIM:207780	Aredyld
OMIM:207790	Arachnoid Cysts, Intracranial
OMIM:207800	Argininemia
OMIM:207900	Argininosuccinic Aciduria
OMIM:207950	Chiari Malformation Type Ii
OMIM:208000	Arterial Calcification, Generalized, Of Infancy, 1
OMIM:208050	Arterial Tortuosity Syndrome
OMIM:208060	Arteriosclerosis, Severe Juvenile
OMIM:208080	Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies
OMIM:208081	Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
OMIM:208085	Arthrogryposis, Renal Dysfunction, And Cholestasis 1
OMIM:208100	Arthrogryposis Multiplex Congenita, Neurogenic Type
OMIM:208150	Fetal Akinesia Deformation Sequence
OMIM:208155	Illum Syndrome
OMIM:208158	Arthrogryposis With Hyperkeratosis
OMIM:208200	Arthrogryposis-Like Disorder
OMIM:208230	Arthropathy, Progressive Pseudorheumatoid, Of Childhood
OMIM:208250	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
OMIM:208300	Ascites, Chylous
OMIM:208400	Aspartylglucosaminuria
OMIM:208500	Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
OMIM:208530	Right Atrial Isomerism
OMIM:208540	Renal-Hepatic-Pancreatic Dysplasia 1
OMIM:208550	Asthma, Nasal Polyps, And Aspirin Intolerance
OMIM:208600	Asthma, Short Stature, And Elevated Iga
OMIM:208700	Ataxia With Myoclonic Epilepsy And Presenile Dementia
OMIM:208750	Ataxia, Deafness, And Cardiomyopathy
OMIM:208850	Ataxia-Deafness-Retardation Syndrome
OMIM:208870	Ataxia-Microcephaly-Cataract Syndrome
OMIM:208900	Ataxia-Telangiectasia
OMIM:208910	Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
OMIM:208920	Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
OMIM:209000	Moved To 613179
OMIM:209010	Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
OMIM:209050	Athrombia, Essential
OMIM:209100	Atonic-Astatic Syndrome Of Foerster
OMIM:209300	Atransferrinemia
OMIM:209500	Atrichia With Papular Lesions
OMIM:209600	Atrioventricular Dissociation
OMIM:209700	Atrophoderma Vermiculata
OMIM:209770	Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
OMIM:209800	Australia Antigen
OMIM:209850	Autism
OMIM:209880	Central Hypoventilation Syndrome, Congenital
OMIM:209885	Barber-Say Syndrome
OMIM:209900	Bardet-Biedl Syndrome
OMIM:209920	Bare Lymphocyte Syndrome, Type Ii
OMIM:209950	Atypical Mycobacteriosis, Familial
OMIM:209970	Beemer Lethal Malformation Syndrome
OMIM:210000	Behr Syndrome
OMIM:210050	Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
OMIM:210100	Beta-Aminoisobutyric Acid, Urinary Excretion Of
OMIM:210200	3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
OMIM:210210	3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
OMIM:210250	Sitosterolemia
OMIM:210350	Biemond Syndrome Ii
OMIM:210370	Bietti Crystalline Corneoretinal Dystrophy
OMIM:210400	Bifid Nose, Autosomal Recessive
OMIM:210450	Moved To 607765
OMIM:210500	Biliary Atresia, Extrahepatic
OMIM:210550	Biliary Malformation With Renal Tubular Insufficiency
OMIM:210600	Seckel Syndrome 1
OMIM:210700	Microcephalic Primordial Dwarfism, Montreal Type
OMIM:210710	Microcephalic Osteodysplastic Primordial Dwarfism, Type I
OMIM:210720	Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
OMIM:210730	Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
OMIM:210740	Bangstad Syndrome
OMIM:210745	Blepharophimosis With Ptosis, Syndactyly, And Short Stature
OMIM:210750	Skin/Hair/Eye Pigmentation, Variation In, 6
OMIM:210900	Bloom Syndrome
OMIM:211000	Blue Diaper Syndrome
OMIM:211100	Fucosyltransferase 1
OMIM:211120	Bone Dysplasia, Lethal, Holmgren Type
OMIM:211170	Borrone Dermatocardioskeletal Syndrome
OMIM:211180	Bowen-Conradi Syndrome
OMIM:211200	Bowen Syndrome Of Multiple Malformations
OMIM:211350	Kyphomelic Dysplasia
OMIM:211369	Brachydactyly, Type A2, With Microcephaly
OMIM:211370	Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
OMIM:211380	Brachioskeletogenital Syndrome
OMIM:211390	Sabinas Brittle Hair Syndrome
OMIM:211400	Bronchiectasis With Or Without Elevated Sweat Chloride 1
OMIM:211480	Buerger Disease
OMIM:211500	Fazio-Londe Disease
OMIM:211530	Brown-Vialetto-Van Laere Syndrome 1
OMIM:211600	Cholestasis, Progressive Familial Intrahepatic, 1
OMIM:211750	C Syndrome
OMIM:211770	Cahmr Syndrome
OMIM:211800	Calcification Of Joints And Arteries
OMIM:211890	Campomelia, Cumming Type
OMIM:211900	Tumoral Calcinosis, Hyperphosphatemic, Familial
OMIM:211910	Camptodactyly Syndrome, Guadalajara, Type I
OMIM:211920	Camptodactyly Syndrome, Guadalajara, Type Ii
OMIM:211930	Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
OMIM:211960	Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
OMIM:211980	Lung Cancer
OMIM:211990	Camptomelic Syndrome, Long-Limb Type
OMIM:212050	Candidiasis, Familial, 2
OMIM:212060	Carbimazole Sensitivity
OMIM:212065	Congenital Disorder Of Glycosylation, Type Ia
OMIM:212066	Congenital Disorder Of Glycosylation, Type Iia
OMIM:212067	Congenital Disorder Of Glycosylation, Type I/Iix
OMIM:212070	Carboxypeptidase N Deficiency
OMIM:212080	Cardiac Lipidosis, Familial
OMIM:212090	Cardiac Septal Defects With Coarctation Of The Aorta
OMIM:212093	Cardiac Valvular Defect, Developmental
OMIM:212100	Cardioauditory Syndrome Of Sanchez Cascos
OMIM:212110	Moved To 611880
OMIM:212112	Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
OMIM:212120	Moved To 212112
OMIM:212130	Cardiomyopathy Associated With Myopathy And Sudden Death
OMIM:212135	Cardioskeletal Syndrome, Kuwaiti Type
OMIM:212138	Carnitine-Acylcarnitine Translocase Deficiency
OMIM:212140	Carnitine Deficiency, Systemic Primary
OMIM:212160	Carnitine Deficiency, Myopathic
OMIM:212200	Carnosinemia
OMIM:212350	Sengers Syndrome
OMIM:212360	Palmoplantar Keratoderma And Congenital Alopecia, Autosomal Recessive
OMIM:212400	Cataract And Congenital Ichthyosis
OMIM:212500	Cataract, Congenital Or Juvenile
OMIM:212540	Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
OMIM:212550	Microphthalmia, Isolated, With Cataract 2
OMIM:212710	Cataract-Ataxia-Deafness-Retardation Syndrome
OMIM:212720	Martsolf Syndrome
OMIM:212750	Celiac Disease
OMIM:212780	Cenani-Lenz Syndactyly Syndrome
OMIM:212790	Premature Centromere Division
OMIM:212800	Cephalin Lipidosis
OMIM:212835	Cerebellar Ataxia And Ectodermal Dysplasia
OMIM:212840	Gordon Holmes Syndrome
OMIM:212850	Cerebellar Ataxia And Neurosensory Deafness
OMIM:212890	Cerebellar Ataxia, Benign, With Thermoanalgesia
OMIM:212900	Moved To 258450
OMIM:213000	Cerebellar Hypoplasia
OMIM:213002	Cerebellar Hypoplasia With Endosteal Sclerosis
OMIM:213010	Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
OMIM:213100	Cerebelloparenchymal Disorder Ii
OMIM:213200	Spinocerebellar Ataxia, Autosomal Recessive 2
OMIM:213300	Joubert Syndrome 1
OMIM:213400	Cerebelloparenchymal Disorder V
OMIM:213500	Cerebral Angiopathy, Dysphoric
OMIM:213600	Basal Ganglia Calcification, Idiopathic, 1
OMIM:213700	Cerebrotendinous Xanthomatosis
OMIM:213900	Cerebral Sclerosis Similar To Pelizaeus-Merzbacher Disease
OMIM:213950	Cerebrocortical Degeneration Of Infancy
OMIM:213980	Cerebrofaciothoracic Dysplasia
OMIM:214100	Peroxisome Biogenesis Disorder 1a (Zellweger)
OMIM:214110	Peroxisome Biogenesis Disorder 2a (Zellweger)
OMIM:214150	Cerebrooculofacioskeletal Syndrome 1
OMIM:214200	Ceroid Storage Disease
OMIM:214290	Cervical Vertebrae, Agenesis Of
OMIM:214300	Klippel-Feil Syndrome 2, Autosomal Recessive
OMIM:214350	Chands
OMIM:214370	Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
OMIM:214400	Charcot-Marie-Tooth Disease, Type 4a
OMIM:214450	Griscelli Syndrome, Type 1
OMIM:214500	Chediak-Higashi Syndrome
OMIM:214700	Diarrhea 1, Secretory Chloride, Congenital
OMIM:214800	Charge Syndrome
OMIM:214900	Cholestasis-Lymphedema Syndrome
OMIM:214950	Bile Acid Synthesis Defect, Congenital, 4
OMIM:214980	Cholestasis With Gallstone, Ataxia, And Visual Disturbance
OMIM:215030	Cholesterol Pneumonia
OMIM:215045	Chondrodysplasia, Blomstrand Type
OMIM:215050	Chondrodysplasia Calcificans Metaphysealis
OMIM:215100	Rhizomelic Chondrodysplasia Punctata, Type 1
OMIM:215140	Greenberg Dysplasia
OMIM:215150	Otospondylomegaepiphyseal Dysplasia
OMIM:215250	Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
OMIM:215300	Chondrosarcoma
OMIM:215400	Chordoma, Susceptibility To
OMIM:215450	Chorea, Benign Familial
OMIM:215470	Boucher-Neuhauser Syndrome
OMIM:215480	Choroid Plexus Calcification And Mental Retardation
OMIM:215500	Choroidal Dystrophy, Central Areolar 1
OMIM:215510	Chromosomal Instability With Tissue-Specific Radiosensitivity
OMIM:215518	Ciliary Discoordination Due To Random Ciliary Orientation
OMIM:215520	Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
OMIM:215550	Circumvallate Placenta Syndrome
OMIM:215600	Cirrhosis, Familial
OMIM:215700	Citrullinemia, Classic
OMIM:215720	Citrulline Transport Defect
OMIM:215800	Cleft Larynx, Posterior
OMIM:215850	Cleft-Limb-Heart Malformation Syndrome
OMIM:216100	Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
OMIM:216300	Cleft Palate, Deafness, And Oligodontia
OMIM:216330	Cleidocranial Dysplasia, Recessive Form
OMIM:216340	Yunis-Varon Syndrome
OMIM:216360	Coach Syndrome
OMIM:216400	Cockayne Syndrome A
OMIM:216411	Cockayne Syndrome, Type Iii
OMIM:216550	Cohen Syndrome
OMIM:216700	Collagenosis, Familial Reactive Perforating
OMIM:216800	Coloboma Of Macula And Skeletal Anomalies
OMIM:216820	Coloboma, Ocular
OMIM:216900	Achromatopsia 2
OMIM:216920	Combined Inflammatory And Immunologic Defect
OMIM:216950	Complement Component C1r/C1s Deficiency
OMIM:217000	Complement Component 2 Deficiency
OMIM:217030	Complement Factor I
OMIM:217050	Complement Component 6
OMIM:217080	Jalili Syndrome
OMIM:217085	Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
OMIM:217090	Plasminogen Deficiency, Type I
OMIM:217095	Conotruncal Heart Malformations
OMIM:217100	Constricting Bands, Congenital
OMIM:217150	Contractures, Congenital, Torticollis, And Malignant Hyperthermia
OMIM:217200	Convulsive Disorder, Familial, With Prenatal Or Early Onset
OMIM:217300	Cornea Plana 2
OMIM:217400	Corneal Dystrophy And Perceptive Deafness
OMIM:217500	Corneal Dystrophy, Band-Shaped
OMIM:217520	Corneal Degeneration, Band-Shaped Spheroid
OMIM:217600	Central Cloudy Dystrophy Of Francois
OMIM:217700	Corneal Endothelial Dystrophy 2, Autosomal Recessive
OMIM:217800	Macular Dystrophy, Corneal, 1
OMIM:217980	Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
OMIM:217990	Corpus Callosum, Agenesis Of
OMIM:218000	Agenesis Of The Corpus Callosum With Peripheral Neuropathy
OMIM:218010	Cortical Blindness, Retardation, And Postaxial Polydactyly
OMIM:218030	Apparent Mineralocorticoid Excess
OMIM:218040	Costello Syndrome
OMIM:218050	Cramps, Familial Adolescent
OMIM:218090	Crane-Heise Syndrome
OMIM:218100	Cranial Nerves, Congenital Paresis Of
OMIM:218200	Cranial Nerves, Recurrent Paresis Of
OMIM:218300	Craniodiaphyseal Dysplasia
OMIM:218330	Cranioectodermal Dysplasia 1
OMIM:218340	Temtamy Syndrome
OMIM:218350	Craniofacial Dyssynostosis With Short Stature
OMIM:218400	Craniometaphyseal Dysplasia, Autosomal Recessive
OMIM:218450	Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
OMIM:218500	Moved To 123100 And 123150
OMIM:218530	Craniosynostosis With Anomalies Of The Cranial Base And Digits
OMIM:218550	Craniosynostosis With Fibular Aplasia
OMIM:218600	Baller-Gerold Syndrome
OMIM:218649	Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
OMIM:218650	Craniosynostosis-Mental Retardation-Clefting Syndrome
OMIM:218670	Craniotelencephalic Dysplasia
OMIM:218700	Hypothyroidism, Congenital, Nongoitrous, 2
OMIM:218800	Crigler-Najjar Syndrome, Type I
OMIM:218900	Crome Syndrome
OMIM:219000	Fraser Syndrome
OMIM:219050	Cryptorchidism, Unilateral Or Bilateral
OMIM:219070	Curved Nail Of Fourth Toe
OMIM:219080	Acth-Independent Macronodular Adrenal Hyperplasia
OMIM:219090	Pituitary Adenoma, Acth-Secreting
OMIM:219095	Cutaneous Photosensitivity And Colitis, Lethal
OMIM:219100	Cutis Laxa, Autosomal Recessive, Type Ia
OMIM:219150	Cutis Laxa, Autosomal Recessive, Type Iiia
OMIM:219200	Cutis Laxa, Autosomal Recessive, Type Iia
OMIM:219250	Cutis Marmorata Telangiectatica Congenita
OMIM:219300	Cutis Verticis Gyrata And Mental Retardation
OMIM:219400	Cyanosis And Hepatic Disease
OMIM:219500	Cystathioninuria
OMIM:219550	Cysteine Peptiduria
OMIM:219600	Cystic Disease Of Lung
OMIM:219700	Cystic Fibrosis
OMIM:219721	Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
OMIM:219730	Ventriculomegaly With Cystic Kidney Disease
OMIM:219750	Cystinosis, Adult Nonnephropathic
OMIM:219800	Cystinosis, Nephropathic
OMIM:219900	Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
OMIM:220100	Cystinuria
OMIM:220110	Mitochondrial Complex Iv Deficiency
OMIM:220111	Leigh Syndrome, French Canadian Type
OMIM:220120	D-Glyceric Aciduria
OMIM:220150	Hypouricemia, Renal, 1
OMIM:220200	Dandy-Walker Syndrome
OMIM:220210	Ritscher-Schinzel Syndrome
OMIM:220219	Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
OMIM:220220	Dandy-Walker Malformation With Postaxial Polydactyly
OMIM:220290	Deafness, Autosomal Recessive 1a
OMIM:220300	Deafness, Congenital, And Familial Myoclonic Epilepsy
OMIM:220400	Jervell And Lange-Nielsen Syndrome 1
OMIM:220500	Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
OMIM:220600	Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
OMIM:220700	Moved To 220290
OMIM:220900	Deafness, Congenital, With Total Albinism
OMIM:221200	Deafness And Myopia
OMIM:221300	Deafness, Conductive, With Malformed External Ear
OMIM:221320	Deafness, Conductive, With Ptosis And Skeletal Anomalies
OMIM:221350	Deafness, Congenital, With Vitiligo And Achalasia
OMIM:221400	Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
OMIM:221500	Deafness, Neural, Congenital Moderate
OMIM:221700	Deafness, Neural, With Atypical Atopic Dermatitis
OMIM:221740	Deafness-Oligodontia Syndrome
OMIM:221745	Deafness, Sensorineural, Autosomal-Mitochondrial Type
OMIM:221750	Pituitary Hormone Deficiency, Combined, 3
OMIM:221760	Dermatoglyphics--Palmar Triradius D, Absence Of
OMIM:221770	Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
OMIM:221780	Dermatoglyphics--Hypothenar Radial Arch
OMIM:221790	Dermatoleukodystrophy
OMIM:221800	Dermochondrocorneal Dystrophy
OMIM:221810	Dermatoosteolysis, Kirghizian Type
OMIM:221820	Leukoencephalopathy, Diffuse Hereditary, With Spheroids
OMIM:221900	Retinal Nonattachment, Nonsyndromic Congenital
OMIM:221950	Dextrocardia With Unusual Facies And Microphthalmia
OMIM:221995	Diabetes Insipidus, Nephrogenic, With Mental Retardation And Intracerebral Calcification
OMIM:222100	Diabetes Mellitus, Insulin-Dependent
OMIM:222300	Wolfram Syndrome 1
OMIM:222350	Diaminopentanuria
OMIM:222400	Diaphragmatic Hernia 2
OMIM:222448	Donnai-Barrow Syndrome
OMIM:222470	Trichohepatoenteric Syndrome 1
OMIM:222500	Diastematomyelia
OMIM:222600	Diastrophic Dysplasia
OMIM:222690	Dibasic Amino Aciduria I
OMIM:222700	Lysinuric Protein Intolerance
OMIM:222730	Dicarboxylic Aminoaciduria
OMIM:222745	2,4-Dienoyl-Coa Reductase 1
OMIM:222748	Dihydropyrimidinase Deficiency
OMIM:222765	Rhizomelic Chondrodysplasia Punctata, Type 2
OMIM:222800	Bisphosphoglycerate Mutase Deficiency
OMIM:222900	Sucrase-Isomaltase Deficiency, Congenital
OMIM:223000	Lactase Deficiency, Congenital
OMIM:223100	Lactose Intolerance, Adult Type
OMIM:223200	Disorganization, Mouse, Homolog Of
OMIM:223300	Disseminated Sclerosis With Narcolepsy
OMIM:223320	Diverticulosis, Small-Intestinal
OMIM:223330	Diverticulosis Of Bowel, Hernia, And Retinal Detachment
OMIM:223340	Dk Phocomelia Syndrome
OMIM:223350	Dohle Bodies And Leukemia
OMIM:223360	Dopamine Beta-Hydroxylase Deficiency, Congenital
OMIM:223370	Dubowitz Syndrome
OMIM:223380	Dopamine Beta-Hydroxylase, Plasma, Thermolability Of
OMIM:223400	Duodenal Atresia
OMIM:223500	Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
OMIM:223540	Dwarfism, Mental Retardation, And Eye Abnormality
OMIM:223550	Dwarfism, Proportionate, With Hip Dislocation
OMIM:223800	Dyggve-Melchior-Clausen Disease
OMIM:223900	Neuropathy, Hereditary Sensory And Autonomic, Type Iii
OMIM:224000	Dysautonomia-Like Disorder
OMIM:224050	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
OMIM:224100	Anemia, Congenital Dyserythropoietic, Type Ii
OMIM:224120	Anemia, Congenital Dyserythropoietic, Type Ia
OMIM:224200	Moved To 229200
OMIM:224230	Dyskeratosis Congenita, Autosomal Recessive, 1
OMIM:224250	Dysmyelination With Jaundice
OMIM:224300	Dysosteosclerosis
OMIM:224400	Dyssegmental Dysplasia, Rolland-Desbuquois Type
OMIM:224410	Dyssegmental Dysplasia, Silverman-Handmaker Type
OMIM:224500	Dystonia 2, Torsion, Autosomal Recessive
OMIM:224550	Dystonia With Ringbinden
OMIM:224690	Meier-Gorlin Syndrome 1
OMIM:224700	Ebstein Anomaly
OMIM:224750	Schopf-Schulz-Passarge Syndrome
OMIM:224800	Ectodermal Dysplasia And Neurosensory Deafness
OMIM:224900	Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
OMIM:225000	Rosselli-Gulienetti Syndrome
OMIM:225040	Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
OMIM:225050	Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
OMIM:225060	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
OMIM:225100	Ectopia Lentis 2, Isolated, Autosomal Recessive
OMIM:225200	Ectopia Lentis Et Pupillae
OMIM:225250	Hypothyroidism, Congenital, Nongoitrous, 5
OMIM:225280	Eem Syndrome
OMIM:225290	Ectrodactyly-Polydactyly
OMIM:225300	Split-Hand/Foot Malformation 6
OMIM:225310	Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
OMIM:225320	Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form
OMIM:225400	Ehlers-Danlos Syndrome, Type Vi
OMIM:225410	Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive
OMIM:225450	Elliptocytosis, Atypical
OMIM:225500	Ellis-Van Creveld Syndrome
OMIM:225700	Encephalomalacia, Multilocular
OMIM:225740	Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
OMIM:225750	Aicardi-Goutieres Syndrome 1
OMIM:225753	Pontocerebellar Hypoplasia, Type 4
OMIM:225755	Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
OMIM:225790	Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
OMIM:226000	Endocardial Fibroelastosis
OMIM:226100	Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
OMIM:226150	Enterocolitis
OMIM:226200	Enterokinase Deficiency
OMIM:226300	Enteropathy, Protein-Losing
OMIM:226350	Eosinophilic Fasciitis
OMIM:226400	Epidermodysplasia Verruciformis
OMIM:226440	Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
OMIM:226500	Epidermolysis Bullosa Dystrophica Neurotrophica
OMIM:226600	Epidermolysis Bullosa Dystrophica, Autosomal Recessive
OMIM:226650	Epidermolysis Bullosa, Junctional, Non-Herlitz Type
OMIM:226670	Epidermolysis Bullosa Simplex With Muscular Dystrophy
OMIM:226700	Epidermolysis Bullosa, Junctional, Herlitz Type
OMIM:226730	Epidermolysis Bullosa Junctionalis With Pyloric Atresia
OMIM:226735	Epidermolysis Bullosa With Diaphragmatic Hernia
OMIM:226750	Kohlschutter-Tonz Syndrome
OMIM:226800	Epilepsy, Photogenic, With Spastic Diplegia And Mental Retardation
OMIM:226810	Epilepsy With Bilateral Occipital Calcifications
OMIM:226850	Epilepsy-Telangiectasia
OMIM:226900	Epiphyseal Dysplasia, Multiple, 4
OMIM:226950	Epiphyseal Dysplasia Of Femoral Head, Myopia, And Deafness
OMIM:226960	Epiphyseal Dysplasia, Microcephaly, And Nystagmus
OMIM:226980	Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
OMIM:226990	Epstein-Barr Virus, Susceptibility To Chronic Infection By
OMIM:227000	Erythema Of Acral Regions
OMIM:227010	Ermine Phenotype
OMIM:227050	Transient Erythroblastopenia Of Childhood
OMIM:227090	Erythroderma, Lethal Congenital
OMIM:227150	Ethanolaminosis
OMIM:227200	Eunuchoidism, Familial Hypogonadotropic
OMIM:227210	Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
OMIM:227220	Skin/Hair/Eye Pigmentation, Variation In, 1
OMIM:227240	Skin/Hair/Eye Pigmentation, Variation In, 5
OMIM:227250	Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
OMIM:227255	Facial Dysmorphism With Multiple Malformations
OMIM:227260	Focal Facial Dermal Dysplasia 3, Setleis Type
OMIM:227270	Faciocardiomelic Dysplasia, Lethal
OMIM:227280	Faciocardiorenal Syndrome
OMIM:227300	Factor V And Factor Viii, Combined Deficiency Of, 1
OMIM:227310	Factor V And Factor Viii, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor
OMIM:227320	Faciothoracogenital Syndrome
OMIM:227330	Faciodigitogenital Syndrome, Autosomal Recessive
OMIM:227400	Factor V Deficiency
OMIM:227500	Factor Vii Deficiency
OMIM:227600	Factor X Deficiency
OMIM:227645	Fanconi Anemia, Complementation Group C
OMIM:227646	Fanconi Anemia, Complementation Group D2
OMIM:227650	Fanconi Anemia, Complementation Group A
OMIM:227810	Fanconi-Bickel Syndrome
OMIM:227850	Fanconi-Like Syndrome
OMIM:228000	Farber Lipogranulomatosis
OMIM:228020	Fascial Dystrophy, Congenital
OMIM:228100	Visceral Steatosis, Congenital
OMIM:228200	Femur-Fibula-Ulna Syndrome
OMIM:228250	Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
OMIM:228300	Fertile Eunuch Syndrome
OMIM:228355	Fetal Iodine Deficiency Disorder
OMIM:228400	Fever, Familial Lifelong Persistent
OMIM:228520	Fibrochondrogenesis 1
OMIM:228550	Myofibromatosis, Infantile, 1
OMIM:228560	Fibromatosis, Gingival, With Distinctive Facies
OMIM:228600	Hyaline Fibromatosis Syndrome
OMIM:228800	Fibrosclerosis, Multifocal
OMIM:228900	Fibular Hypoplasia And Complex Brachydactyly
OMIM:228930	Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
OMIM:228940	Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
OMIM:228960	High Molecular Weight Kininogen Deficiency
OMIM:228980	Fleck Retina, Familial Benign
OMIM:228990	Fleck Retina Of Kandori
OMIM:229045	Focal Epithelial Hyperplasia, Oral
OMIM:229050	Folate Malabsorption, Hereditary
OMIM:229070	Follicle-Stimulating Hormone Deficiency, Isolated
OMIM:229100	Formiminotransferase Deficiency
OMIM:229120	Fountain Syndrome
OMIM:229200	Brittle Cornea Syndrome 1
OMIM:229230	Fraser-Like Syndrome
OMIM:229250	Freesia Flowers, Inability To Smell
OMIM:229300	Friedreich Ataxia 1
OMIM:229310	Friedreich Ataxia And Congenital Glaucoma
OMIM:229400	Frontofacionasal Dysplasia
OMIM:229500	Fructose And Galactose Intolerance
OMIM:229600	Fructose Intolerance, Hereditary
OMIM:229650	Fructose Utilization
OMIM:229700	Fructose-1,6-Bisphosphatase Deficiency
OMIM:229800	Fructosuria, Essential
OMIM:229850	Fryns Syndrome
OMIM:230000	Fucosidosis
OMIM:230200	Galactokinase Deficiency
OMIM:230300	Galactorrhea
OMIM:230350	Galactose Epimerase Deficiency
OMIM:230400	Galactosemia
OMIM:230450	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
OMIM:230500	Gm1-Gangliosidosis, Type I
OMIM:230600	Gm1-Gangliosidosis, Type Ii
OMIM:230650	Gm1-Gangliosidosis, Type Iii
OMIM:230710	Moved To 272800
OMIM:230740	Gapo Syndrome
OMIM:230750	Gastroschisis
OMIM:230800	Gaucher Disease, Type I
OMIM:230900	Gaucher Disease, Type Ii
OMIM:231000	Gaucher Disease, Type Iii
OMIM:231005	Gaucher Disease, Type Iiic
OMIM:231050	Geleophysic Dysplasia 1
OMIM:231060	Genitopalatocardiac Syndrome
OMIM:231070	Geroderma Osteodysplasticum
OMIM:231080	German Syndrome
OMIM:231090	Hydatidiform Mole, Recurrent, 1
OMIM:231095	Ghosal Hematodiaphyseal Dysplasia
OMIM:231100	Hemochromatosis, Neonatal
OMIM:231200	Bernard-Soulier Syndrome
OMIM:231300	Glaucoma 3, Primary Congenital, A
OMIM:231530	3-Hydroxyacyl-Coa Dehydrogenase Deficiency
OMIM:231550	Achalasia-Addisonianism-Alacrima Syndrome
OMIM:231630	Monosodium Glutamate Sensitivity
OMIM:231670	Glutaric Acidemia I
OMIM:231680	Multiple Acyl-Coa Dehydrogenase Deficiency
OMIM:231690	Glutaric Aciduria Iii
OMIM:231900	Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
OMIM:231950	Glutathionuria
OMIM:231970	Gluteal Muscles, Absence Of
OMIM:232200	Glycogen Storage Disease Ia
OMIM:232220	Glycogen Storage Disease Ib
OMIM:232240	Glycogen Storage Disease Ic
OMIM:232300	Glycogen Storage Disease Ii
OMIM:232400	Glycogen Storage Disease Iii
OMIM:232500	Glycogen Storage Disease Iv
OMIM:232600	Glycogen Storage Disease V
OMIM:232700	Glycogen Storage Disease Vi
OMIM:232800	Glycogen Storage Disease Vii
OMIM:232900	Glycoprotein Storage Disease
OMIM:233100	Renal Glucosuria
OMIM:233270	Gombo Syndrome
OMIM:233300	Ovarian Dysgenesis 1
OMIM:233400	Perrault Syndrome 1
OMIM:233420	46,Xy Sex Reversal 7
OMIM:233430	Gonadal Dysgenesis, Xy Type, With Associated Anomalies
OMIM:233450	Goodpasture Syndrome
OMIM:233500	Gorlin-Chaudhry-Moss Syndrome
OMIM:233600	Granulocytopenia With Immunoglobulin Abnormality
OMIM:233650	Combined Cellular And Humoral Immune Defects With Granulomas
OMIM:233670	Granulomatous Disease With Defect In Neutrophil Chemotaxis
OMIM:233690	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
OMIM:233700	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
OMIM:233710	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii
OMIM:233800	Grouped Pigmentation Of The Retina
OMIM:233805	Growth Factors, Combined Defect Of
OMIM:233810	Growth Retardation, Small And Puffy Hands And Feet, And Eczema
OMIM:233910	Hyperphenylalaninemia, Bh4-Deficient, B
OMIM:234000	Factor Xii Deficiency
OMIM:234030	Hair Defect With Photosensitivity And Mental Retardation
OMIM:234050	Trichothiodystrophy, Nonphotosensitive 1
OMIM:234100	Hallermann-Streiff Syndrome
OMIM:234200	Neurodegeneration With Brain Iron Accumulation 1
OMIM:234250	Hall-Riggs Mental Retardation Syndrome
OMIM:234280	Hallux Varus And Preaxial Polysyndactyly
OMIM:234350	Halothane Hepatitis
OMIM:234500	Hartnup Disorder
OMIM:234580	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects
OMIM:234700	Heart Block, Congenital
OMIM:234800	Hemangiomatosis, Cutaneous, With Associated Features
OMIM:234810	Pulmonary Venoocclusive Disease 2, Autosomal Recessive
OMIM:234820	Hemangiopericytoma, Malignant
OMIM:235000	Hemihyperplasia, Isolated
OMIM:235200	Hemochromatosis, Type 1
OMIM:235255	Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
OMIM:235370	Hemolytic Anemia With Thermal Sensitivity Of Red Cells
OMIM:235400	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
OMIM:235500	Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
OMIM:235510	Hennekam Lymphangiectasia-Lymphedema Syndrome
OMIM:235550	Hepatic Venoocclusive Disease With Immunodeficiency
OMIM:235555	Bile Acid Synthesis Defect, Congenital, 2
OMIM:235600	Moved To 400045
OMIM:235700	Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
OMIM:235730	Mowat-Wilson Syndrome
OMIM:235740	Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
OMIM:235750	Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
OMIM:235760	Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
OMIM:235800	Histidinemia
OMIM:235830	Histidinuria Due To A Renal Tubular Defect
OMIM:235900	Histiocytosis, Familial Lipochrome
OMIM:236000	Lymphoma, Hodgkin
OMIM:236100	Holoprosencephaly
OMIM:236110	Holzgreve Syndrome
OMIM:236130	Homocarnosinosis
OMIM:236200	Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
OMIM:236250	Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
OMIM:236270	Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
OMIM:236300	Hooft Disease
OMIM:236400	Humeroradial Synostosis
OMIM:236410	Humeroradial Synostosis With Craniofacial Anomalies
OMIM:236450	Hutterite Cerebroosteonephrodysplasia Syndrome
OMIM:236490	Moved To 228600
OMIM:236500	Hydranencephaly With Renal Aplasia-Dysplasia
OMIM:236600	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
OMIM:236640	Hydrocephalus With Associated Malformations
OMIM:236660	Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
OMIM:236670	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
OMIM:236680	Hydrolethalus Syndrome 1
OMIM:236690	Hydrocephalus, Normal-Pressure
OMIM:236700	Mckusick-Kaufman Syndrome
OMIM:236730	Urofacial Syndrome 1
OMIM:236750	Hydrops Fetalis, Nonimmune
OMIM:236792	L-2-Hydroxyglutaric Aciduria
OMIM:236795	3-Hydroxyisobutyric Aciduria
OMIM:236800	Hydroxykynureninuria
OMIM:236900	Hydroxylysinuria
OMIM:237000	Hydroxyprolinemia
OMIM:237100	Hymen, Imperforate
OMIM:237300	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
OMIM:237310	N-Acetylglutamate Synthase Deficiency
OMIM:237400	Hyper-Beta-Alaninemia
OMIM:237450	Hyperbilirubinemia, Rotor Type
OMIM:237500	Dubin-Johnson Syndrome
OMIM:237550	Hyperbilirubinemia, Conjugated, Type Iii
OMIM:237800	Hyperbilirubinemia, Shunt, Primary
OMIM:237900	Hyperbilirubinemia, Transient Familial Neonatal
OMIM:238320	Leydig Cell Hypoplasia, Type I
OMIM:238340	Hyperleucine-Isoleucinemia
OMIM:238350	Hyperlexia
OMIM:238600	Hyperlipoproteinemia, Type I
OMIM:238700	Hyperlysinemia, Type I
OMIM:238710	Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
OMIM:238750	Hyperlysinuria With Hyperammonemia
OMIM:238800	Hypermetabolism Due To Defect In Mitochondria
OMIM:238950	Hyperopia, High
OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
OMIM:239000	Paget Disease, Juvenile
OMIM:239100	Hyperostosis Corticalis Generalisata
OMIM:239199	Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
OMIM:239200	Hyperparathyroidism, Neonatal Severe
OMIM:239300	Hyperphosphatasia With Mental Retardation Syndrome 1
OMIM:239350	Hyperphosphatemia, Polyuria, And Seizures
OMIM:239500	Hyperprolinemia, Type I
OMIM:239510	Hyperprolinemia, Type Ii
OMIM:239710	Acrofrontofacionasal Dysostosis 2
OMIM:239711	Hypertelorism And Tetralogy Of Fallot
OMIM:239800	Hypertelorism, Microtia, Facial Clefting Syndrome
OMIM:239840	Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
OMIM:239850	Cantu Syndrome
OMIM:239900	Hypertrophic Neuropathy And Cataract
OMIM:240000	Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
OMIM:240150	Hypervitaminosis A, Susceptibility To
OMIM:240200	Hypoadrenocorticism, Familial
OMIM:240300	Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
OMIM:240400	Hypoascorbemia
OMIM:240500	Immunodeficiency, Common Variable, 2
OMIM:240600	Glycogen Storage Disease 0, Liver
OMIM:240800	Hypoglycemia, Leucine-Induced
OMIM:240900	Hypoinsulinemic Hypoglycemia With Hemihypertrophy
OMIM:240950	Hypogonadism-Cataract Syndrome
OMIM:241000	Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
OMIM:241080	Woodhouse-Sakati Syndrome
OMIM:241090	Hypergonadotropic Hypogonadism And Partial Alopecia
OMIM:241100	Hypogonadism, Male
OMIM:241120	Hypohidrosis With Abnormal Palmar Dermal Ridges
OMIM:241150	Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
OMIM:241200	Bartter Syndrome, Antenatal, Type 2
OMIM:241310	Hypomandibular Faciocranial Dysostosis
OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism Syndrome
OMIM:241500	Hypophosphatasia, Infantile
OMIM:241510	Hypophosphatasia, Childhood
OMIM:241519	Hypophosphatemia, Renal, With Intracerebral Calcifications
OMIM:241520	Hypophosphatemic Rickets, Autosomal Recessive, 1
OMIM:241530	Hypophosphatemic Rickets With Hypercalciuria, Hereditary
OMIM:241550	Hypoplastic Left Heart Syndrome 1
OMIM:241600	Hypoproteinemia, Hypercatabolic
OMIM:241760	Hypospadias-Mental Retardation Syndrome
OMIM:241800	Hypothalamic Hamartomas
OMIM:241850	Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate
OMIM:242050	Hypouricemia, Hypercalcinuria, And Decreased Bone Density
OMIM:242100	Ichthyosis, Congenital, Autosomal Recessive 2
OMIM:242150	Ichthyosiform Erythroderma, Corneal Involvement, And Deafness
OMIM:242300	Ichthyosis, Congenital, Autosomal Recessive 1
OMIM:242500	Ichthyosis, Congenital, Autosomal Recessive 4b
OMIM:242510	Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
OMIM:242520	Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
OMIM:242530	Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
OMIM:242550	Ichthyosis, Split Hairs, And Amino Aciduria
OMIM:242600	Iminoglycinuria
OMIM:242670	Ciliary Dyskinesia With Defective Radial Spokes
OMIM:242680	Ciliary Dyskinesia With Excessively Long Cilia
OMIM:242700	Immune Defect Due To Absence Of Thymus
OMIM:242840	Vici Syndrome
OMIM:242850	Immune Deficiency Disease
OMIM:242860	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
OMIM:242870	Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
OMIM:242880	Immunoerythromyeloid Hypoplasia
OMIM:242890	Immunoglobulin D Level In Plasma, Low
OMIM:242900	Immunoosseous Dysplasia, Schimke Type
OMIM:243000	Indifference To Pain, Congenital, Autosomal Recessive
OMIM:243050	Indolylacroyl Glycinuria With Mental Retardation
OMIM:243060	Spermatogenic Failure 5
OMIM:243080	Inosine Phosphorylase Deficiency, Immune Defect Due To
OMIM:243100	Internal Carotid Arteries, Hypoplasia Of
OMIM:243110	Immunodeficiency With Defective T-Cell Response To Interleukin 1
OMIM:243150	Intestinal Atresia, Multiple
OMIM:243180	Visceral Neuropathy, Familial, Autosomal Recessive
OMIM:243185	Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
OMIM:243200	Intracranial Hypertension, Idiopathic
OMIM:243300	Cholestasis, Benign Recurrent Intrahepatic, 1
OMIM:243310	Baraitser-Winter Syndrome 1
OMIM:243320	Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
OMIM:243400	Acetylation, Slow
OMIM:243440	Isotretinoin Embryopathy-Like Syndrome
OMIM:243450	Isovaleric Acid, Inability To Smell
OMIM:243500	Isovaleric Acidemia
OMIM:243600	Jejunal Atresia
OMIM:243700	Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive
OMIM:243800	Johanson-Blizzard Syndrome
OMIM:243910	Arima Syndrome
OMIM:244100	Jumping Frenchman Of Maine
OMIM:244200	Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
OMIM:244300	Kapur-Toriello Syndrome
OMIM:244400	Ciliary Dyskinesia, Primary, 1
OMIM:244450	Kaufman Oculocerebrofacial Syndrome
OMIM:244460	Kenny-Caffey Syndrome, Type 1
OMIM:244600	Keratoconus Posticus Circumscriptus
OMIM:244850	Palmoplantar Keratoderma, Norrbotten Recessive Type
OMIM:245000	Papillon-Lefevre Syndrome
OMIM:245010	Haim-Munk Syndrome
OMIM:245050	Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency
OMIM:245100	Richards-Rundle Syndrome
OMIM:245130	Ketoadipicaciduria
OMIM:245150	Keutel Syndrome
OMIM:245160	Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
OMIM:245180	Kifafa Seizure Disorder
OMIM:245190	Kniest-Like Dysplasia, Lethal
OMIM:245200	Krabbe Disease
OMIM:245300	Kuru, Susceptibility To
OMIM:245340	Erythrocyte Lactate Transporter Defect
OMIM:245348	Pyruvate Dehydrogenase E2 Deficiency
OMIM:245349	Pyruvate Dehydrogenase E3-Binding Protein Deficiency
OMIM:245400	Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
OMIM:245450	Lactic Aciduria Due To D-Lactic Acid
OMIM:245480	Specific Granule Deficiency
OMIM:245550	Lambert Syndrome
OMIM:245552	Lambotte Syndrome
OMIM:245570	Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation
OMIM:245590	Growth Hormone Insensitivity With Immunodeficiency
OMIM:245600	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, And Congenital Heart Defects
OMIM:245650	Larsen-Like Syndrome, Lethal Type
OMIM:245660	Laryngoonychocutaneous Syndrome
OMIM:245800	Laurence-Moon Syndrome
OMIM:245900	Lecithin:Cholesterol Acyltransferase Deficiency
OMIM:246000	Leg, Absence Deformity Of, With Congenital Cataract
OMIM:246200	Donohue Syndrome
OMIM:246300	Leprosy, Susceptibility To, 3
OMIM:246400	Letterer-Siwe Disease
OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
OMIM:246470	Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
OMIM:246500	Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
OMIM:246550	Lichtenstein Syndrome
OMIM:246555	Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
OMIM:246560	Split-Hand/Foot Malformation 3
OMIM:246570	Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
OMIM:246650	Lipase Deficiency, Combined
OMIM:246700	Chylomicron Retention Disease
OMIM:246900	Dihydrolipoamide Dehydrogenase Deficiency
OMIM:247100	Lipoid Proteinosis Of Urbach And Wiethe
OMIM:247150	Lip Prints
OMIM:247200	Miller-Dieker Lissencephaly Syndrome
OMIM:247410	Lymphedema-Hypoparathyroidism Syndrome
OMIM:247420	Lutheran Null
OMIM:247430	Lymphoblastic Transformation, Inhibition Of
OMIM:247440	Lymphedema, Congenital Recessive
OMIM:247450	Lymphoblastic Transformation, Intrinsic Defect In
OMIM:247610	Lymphoid Interstitial Pneumonia
OMIM:247630	Lymphoid System Deterioration, Progressive
OMIM:247640	Lymphoblastic Leukemia, Acute, With Lymphomatous Features
OMIM:247650	Lymphokine Deficiency
OMIM:247800	Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
OMIM:247950	Lysine Malabsorption Syndrome
OMIM:247980	Lipase B, Lysosomal Acid
OMIM:247990	Macdermot-Winter Syndrome
OMIM:248000	Megalencephaly, Autosomal Recessive
OMIM:248010	Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
OMIM:248100	Macrosomia Adiposa Congenita
OMIM:248110	Macrosomia With Microphthalmia, Lethal
OMIM:248190	Hypomagnesemia 5, Renal, With Ocular Involvement
OMIM:248200	Stargardt Disease 1
OMIM:248250	Hypomagnesemia 3, Renal
OMIM:248260	Magnesium, Elevated Red Cell
OMIM:248300	Mal De Meleda
OMIM:248310	Plasmodium Falciparum Blood Infection Level
OMIM:248340	3mc Syndrome 3
OMIM:248360	Malonyl-Coa Decarboxylase Deficiency
OMIM:248370	Mandibuloacral Dysplasia With Type A Lipodystrophy
OMIM:248390	Treacher Collins Syndrome 3
OMIM:248400	Mandibulofacial Dysostosis With Mental Deficiency
OMIM:248450	Manitoba Oculotrichoanal Syndrome
OMIM:248500	Mannosidosis, Alpha B, Lysosomal
OMIM:248510	Mannosidosis, Beta A, Lysosomal
OMIM:248600	Maple Syrup Urine Disease
OMIM:248700	Marden-Walker Syndrome
OMIM:248760	Marfanoid Habitus With Microcephaly And Glomerulonephritis
OMIM:248770	Marfanoid Mental Retardation Syndrome, Autosomal
OMIM:248800	Marinesco-Sjogren Syndrome
OMIM:248900	Mast Syndrome
OMIM:248910	Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
OMIM:248950	Mcdonough Syndrome
OMIM:249000	Meckel Syndrome, Type 1
OMIM:249100	Familial Mediterranean Fever
OMIM:249210	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
OMIM:249230	Megaepiphyseal Dwarfism
OMIM:249240	Megalencephaly With Dysmyelination
OMIM:249270	Thiamine-Responsive Megaloblastic Anemia Syndrome
OMIM:249300	Megalocornea
OMIM:249310	Megalocornea-Mental Retardation Syndrome
OMIM:249400	Melanosis, Neurocutaneous
OMIM:249420	Frank-Ter Haar Syndrome
OMIM:249500	Mental Retardation, Autosomal Recessive 1
OMIM:249599	Mental Retardation Syndrome, Belgian Type
OMIM:249600	Mental Retardation Syndrome, Mietens-Weber Type
OMIM:249620	Ohdo Syndrome
OMIM:249630	Mental Retardation, Buenos Aires Type
OMIM:249650	Mercaptolactate-Cysteine Disulfiduria
OMIM:249660	Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
OMIM:249670	Mesoaxial Hexadactyly And Cardiac Malformation
OMIM:249700	Langer Mesomelic Dysplasia
OMIM:249710	Mesomelic Limb Shortening And Bowing
OMIM:249900	Metachromatic Leukodystrophy Due To Saposin B Deficiency
OMIM:250100	Metachromatic Leukodystrophy
OMIM:250215	Metaphyseal Acroscyphodysplasia
OMIM:250220	Spondylometaphyseal Dysplasia, Sedaghatian Type
OMIM:250230	Metaphyseal Chondrodysplasia, Kaitila Type
OMIM:250250	Cartilage-Hair Hypoplasia
OMIM:250300	Metaphyseal Chondrodysplasia, Pena Type
OMIM:250400	Metaphyseal Chondrodysplasia, Spahr Type
OMIM:250410	Metaphyseal Chondrodysplasia With Retinitis Pigmentosa
OMIM:250420	Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
OMIM:250450	Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
OMIM:250460	Metaphyseal Dysplasia Without Hypotrichosis
OMIM:250500	Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
OMIM:250620	Beta-Hydroxyisobutyryl Coa Deacylase Deficiency
OMIM:250650	Methane Production
OMIM:250700	Methemoglobin Reductase Deficiency
OMIM:250790	Methemoglobinemia Type Iv
OMIM:250800	Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
OMIM:250850	Methionine Adenosyltransferase Deficiency
OMIM:250900	Methionine Malabsorption Syndrome
OMIM:250940	Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
OMIM:250950	3-Methylglutaconic Aciduria, Type I
OMIM:250951	3-Methylglutaconic Aciduria, Type Iv
OMIM:251000	Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
OMIM:251100	Methylmalonic Aciduria, Cbla Type
OMIM:251110	Methylmalonic Aciduria, Cblb Type
OMIM:251120	Methylmalonyl-Coa Epimerase Deficiency
OMIM:251190	Microcephalic Primordial Dwarfism, Toriello Type
OMIM:251200	Microcephaly 1, Primary, Autosomal Recessive
OMIM:251220	Microcephaly-Cardiomyopathy
OMIM:251230	Microcephaly-Micromelia Syndrome
OMIM:251240	Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
OMIM:251250	Microcephaly With Cervical Spine Fusion Anomalies
OMIM:251255	Jawad Syndrome
OMIM:251260	Nijmegen Breakage Syndrome
OMIM:251270	Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Recessive
OMIM:251280	Microcephaly With Spastic Quadriplegia
OMIM:251290	Band-Like Calcification With Simplified Gyration And Polymicrogyria
OMIM:251300	Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
OMIM:251400	Microcolon
OMIM:251450	Desbuquois Dysplasia
OMIM:251505	Microphthalmia, Isolated, With Coloboma 4
OMIM:251600	Microphthalmia, Isolated 1
OMIM:251700	Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
OMIM:251750	Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
OMIM:251800	Microtia With Meatal Atresia And Conductive Deafness
OMIM:251850	Diarrhea 2, With Microvillus Atrophy
OMIM:251880	Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
OMIM:251900	Mitochondrial Myopathy
OMIM:251945	Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
OMIM:251950	Mitochondrial Myopathy With Lactic Acidosis
OMIM:252010	Mitochondrial Complex I Deficiency
OMIM:252011	Mitochondrial Complex Ii Deficiency
OMIM:252100	Mohr Syndrome
OMIM:252150	Molybdenum Cofactor Deficiency, Complementation Group A
OMIM:252160	Molybdenum Cofactor Deficiency, Complementation Group B
OMIM:252200	Moved To 158000 And 607903
OMIM:252250	Monocyte Chemotactic Disorder
OMIM:252270	Monosomy 7 Of Bone Marrow
OMIM:252300	Morquio Syndrome C
OMIM:252320	Motor Neuropathy, Peripheral, With Dysautonomia
OMIM:252350	Moyamoya Disease 1
OMIM:252500	Mucolipidosis Ii Alpha/Beta
OMIM:252600	Mucolipidosis Iii Alpha/Beta
OMIM:252605	Mucolipidosis Iii Gamma
OMIM:252650	Mucolipidosis Iv
OMIM:252700	Mucopolysaccharidoses, Unclassified Types
OMIM:252900	Mucopolysaccharidosis, Type Iiia
OMIM:252920	Mucopolysaccharidosis, Type Iiib
OMIM:252930	Mucopolysaccharidosis, Type Iiic
OMIM:252940	Mucopolysaccharidosis, Type Iiid
OMIM:253000	Mucopolysaccharidosis, Type Iva
OMIM:253010	Mucopolysaccharidosis Type Ivb
OMIM:253200	Mucopolysaccharidosis Type Vi
OMIM:253220	Mucopolysaccharidosis, Type Vii
OMIM:253230	Moved To 601492
OMIM:253240	Mucus Inspissation Of Respiratory Tract
OMIM:253250	Mulibrey Nanism
OMIM:253260	Biotinidase Deficiency
OMIM:253270	Holocarboxylase Synthetase Deficiency
OMIM:253280	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
OMIM:253290	Multiple Pterygium Syndrome, Lethal Type
OMIM:253300	Spinal Muscular Atrophy, Type I
OMIM:253310	Lethal Congenital Contracture Syndrome 1
OMIM:253320	Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
OMIM:253400	Spinal Muscular Atrophy, Type Iii
OMIM:253550	Spinal Muscular Atrophy, Type Ii
OMIM:253590	Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
OMIM:253600	Muscular Dystrophy, Limb-Girdle, Type 2a
OMIM:253601	Muscular Dystrophy, Limb-Girdle, Type 2b
OMIM:253700	Muscular Dystrophy, Limb-Girdle, Type 2c
OMIM:253800	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
OMIM:253900	Muscular Dystrophy, Congenital, Producing Arthrogryposis
OMIM:254000	Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
OMIM:254090	Ullrich Congenital Muscular Dystrophy
OMIM:254100	Muscular Dystrophy, Congenital, With Rapid Progression
OMIM:254110	Muscular Dystrophy, Limb-Girdle, Type 2h
OMIM:254120	Muscular Hypertonia, Lethal
OMIM:254130	Miyoshi Muscular Dystrophy 1
OMIM:254150	Musk, Inability To Smell
OMIM:254190	Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
OMIM:254200	Myasthenia Gravis
OMIM:254210	Myasthenic Syndrome, Congenital, Associated With Episodic Apnea
OMIM:254300	Myasthenia, Limb-Girdle, Familial
OMIM:254400	Mycosis Fungoides
OMIM:254450	Myelofibrosis
OMIM:254500	Myeloma, Multiple
OMIM:254600	Myeloperoxidase Deficiency
OMIM:254700	Myeloproliferative Disease, Autosomal Recessive
OMIM:254770	Epilepsy, Myoclonic Juvenile
OMIM:254780	Myoclonic Epilepsy Of Lafora
OMIM:254800	Myoclonic Epilepsy Of Unverricht And Lundborg
OMIM:254900	Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure
OMIM:254940	Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence
OMIM:254950	Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
OMIM:254960	Myopathy Due To Malate-Aspartate Shuttle Defect
OMIM:255100	Myopathy With Abnormal Lipid Metabolism
OMIM:255110	Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset
OMIM:255120	Carnitine Palmitoyltransferase I Deficiency
OMIM:255125	Myopathy With Lactic Acidosis, Hereditary
OMIM:255140	Myopathy With Giant Abnormal Mitochondria
OMIM:255160	Myopathy, Hyaline Body, Autosomal Recessive
OMIM:255200	Myopathy, Centronuclear, 2
OMIM:255300	Myopathy, Congenital
OMIM:255310	Myopathy, Congenital, With Fiber-Type Disproportion
OMIM:255320	Minicore Myopathy With External Ophthalmoplegia
OMIM:255500	Myopia 18, Autosomal Recessive
OMIM:255600	Myosclerosis, Autosomal Recessive
OMIM:255700	Myotonia Congenita, Autosomal Recessive
OMIM:255710	Myotonia With Skeletal Abnormalities And Mental Retardation
OMIM:255800	Schwartz-Jampel Syndrome, Type 1
OMIM:255900	Myxedema
OMIM:255960	Myxoma, Intracardiac
OMIM:255980	Nasodigitoacoustic Syndrome
OMIM:255990	Nathalie Syndrome
OMIM:255995	Native American Myopathy
OMIM:256000	Leigh Syndrome
OMIM:256020	Nail-Patella-Like Renal Disease
OMIM:256030	Nemaline Myopathy 2
OMIM:256040	Autoinflammation, Lipodystrophy, And Dermatosis Syndrome
OMIM:256050	Atelosteogenesis, Type Ii
OMIM:256100	Nephronophthisis 1
OMIM:256120	Nephropathy, Deafness, And Hyperparathyroidism
OMIM:256150	Nephrosialidosis
OMIM:256200	Nephrosis With Deafness And Urinary Tract And Digital Malformations
OMIM:256300	Nephrotic Syndrome, Type 1
OMIM:256370	Nephrotic Syndrome, Type 4
OMIM:256450	Hyperinsulinemic Hypoglycemia, Familial, 1
OMIM:256500	Netherton Syndrome
OMIM:256520	Neu-Laxova Syndrome
OMIM:256540	Galactosialidosis
OMIM:256550	Neuraminidase Deficiency
OMIM:256600	Neurodegeneration With Brain Iron Accumulation 2a
OMIM:256690	Neurofaciodigitorenal Syndrome
OMIM:256700	Neuroblastoma, Susceptibility To
OMIM:256710	Elejalde Disease
OMIM:256720	Neurologic Disease, Infantile Multisystem, With Osseous Fragility
OMIM:256730	Ceroid Lipofuscinosis, Neuronal, 1
OMIM:256731	Ceroid Lipofuscinosis, Neuronal, 5
OMIM:256800	Insensitivity To Pain, Congenital, With Anhidrosis
OMIM:256810	Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
OMIM:256840	Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
OMIM:256850	Giant Axonal Neuropathy 1
OMIM:256860	Neuropathy, Hereditary Sensory, Atypical
OMIM:256870	Neuropathy, Painful
OMIM:257000	Neurovisceral Storage Disease With Curvilinear Bodies
OMIM:257100	Neutropenia, Lethal Congenital, With Eosinophilia
OMIM:257150	Neutrophil Actin Dysfunction
OMIM:257200	Niemann-Pick Disease, Type A
OMIM:257220	Niemann-Pick Disease, Type C1
OMIM:257270	Night Blindness, Congenital Stationary, Type 1b
OMIM:257300	Mosaic Variegated Aneuploidy Syndrome 1
OMIM:257320	Lissencephaly 2
OMIM:257350	Nuchal Bleb, Familial
OMIM:257400	Nystagmus, Congenital, Autosomal Recessive
OMIM:257500	Obesity-Hypoventilation Syndrome
OMIM:257550	Ocular Motor Apraxia
OMIM:257600	Ocular Myopathy With Curare Sensitivity
OMIM:257790	Oculocerebral Hypopigmentation Syndrome Of Preus
OMIM:257800	Oculocerebral Syndrome With Hypopigmentation
OMIM:257850	Oculodentodigital Dysplasia, Autosomal Recessive
OMIM:257910	Oculopalatocerebral Syndrome
OMIM:257920	3mc Syndrome 1
OMIM:257960	Oculotrichodysplasia
OMIM:257970	Oculorenocerebellar Syndrome
OMIM:257980	Odontoonychodermal Dysplasia
OMIM:258040	Oeis Complex
OMIM:258100	Oguchi Disease 1
OMIM:258150	Spermatogenic Failure 1
OMIM:258200	Oliver Syndrome
OMIM:258300	Olivopontocerebellar Atrophy Ii, Autosomal Recessive
OMIM:258315	Omodysplasia 1
OMIM:258320	Omphalocele-Cleft Palate Syndrome, Lethal
OMIM:258360	Onychotrichodysplasia And Neutropenia
OMIM:258400	Ophthalmoplegia Totalis With Ptosis And Miosis
OMIM:258450	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive
OMIM:258470	Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
OMIM:258480	Opsismodysplasia
OMIM:258500	Optic Atrophy 6
OMIM:258501	3-Methylglutaconic Aciduria, Type Iii
OMIM:258650	Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
OMIM:258660	Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
OMIM:258700	Opticocochleodentate Degeneration
OMIM:258800	Oral Sensibility, Disturbance Of
OMIM:258840	Oral And Digital Anomalies With Ichthyosis
OMIM:258850	Orofaciodigital Syndrome Iii
OMIM:258860	Orofaciodigital Syndrome Iv
OMIM:258865	Orofaciodigital Syndrome Ix
OMIM:258870	Gyrate Atrophy Of Choroid And Retina
OMIM:258900	Orotic Aciduria
OMIM:258920	Moved To 258900
OMIM:259050	Ossified Ear Cartilages With Mental Deficiency, Muscle Wasting, And Bony Changes
OMIM:259100	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
OMIM:259200	Blount Disease, Adolescent
OMIM:259250	Osteodysplasia, Familial, Anderson Type
OMIM:259270	Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
OMIM:259410	Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
OMIM:259420	Osteogenesis Imperfecta, Type Iii
OMIM:259440	Osteogenesis Imperfecta, Type Ix
OMIM:259450	Bruck Syndrome 1
OMIM:259500	Osteogenic Sarcoma
OMIM:259550	Osteoid Osteoma
OMIM:259600	Multicentric Osteolysis, Nodulosis, And Arthropathy
OMIM:259610	Osteolysis Syndrome, Recessive
OMIM:259650	Osteoma Of Middle Ear
OMIM:259660	Osteomalacia, Sclerosing, With Cerebral Calcification
OMIM:259680	Chronic Recurrent Multifocal Osteomyelitis
OMIM:259690	Osteopenia And Sparse Hair
OMIM:259700	Osteopetrosis, Autosomal Recessive 1
OMIM:259710	Osteopetrosis, Autosomal Recessive 2
OMIM:259720	Osteopetrosis, Autosomal Recessive 5
OMIM:259730	Osteopetrosis, Autosomal Recessive 3
OMIM:259750	Osteoporosis, Juvenile
OMIM:259770	Osteoporosis-Pseudoglioma Syndrome
OMIM:259775	Raine Syndrome
OMIM:259780	Otoonychoperoneal Syndrome
OMIM:259900	Hyperoxaluria, Primary, Type I
OMIM:260000	Hyperoxaluria, Primary, Type Ii
OMIM:260005	5-Oxoprolinase Deficiency
OMIM:260100	Pa Polymorphism Of Alpha-2-Globulin
OMIM:260130	Pachyonychia Congenita, Autosomal Recessive
OMIM:260150	Palant Cleft Palate Syndrome
OMIM:260200	Pallidal Degeneration, Progressive, With Retinitis Pigmentosa
OMIM:260300	Parkinson Disease 15, Autosomal Recessive Early-Onset
OMIM:260350	Pancreatic Cancer
OMIM:260370	Pancreatic Agenesis, Congenital
OMIM:260400	Shwachman-Diamond Syndrome
OMIM:260450	Pancreatic Insufficiency, Combined Exocrine
OMIM:260470	Panencephalitis, Subacute Sclerosing
OMIM:260480	Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
OMIM:260500	Papilloma Of Choroid Plexus
OMIM:260530	Parana Hard-Skin Syndrome
OMIM:260540	Parkinson-Dementia Syndrome
OMIM:260565	Peho Syndrome
OMIM:260570	Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain
OMIM:260600	Leukodystrophy, Hypomyelinating, 3
OMIM:260650	Pellagra-Like Syndrome
OMIM:260660	Cousin Syndrome
OMIM:260800	Pentosuria
OMIM:260900	Pericardial Effusion, Chronic
OMIM:260910	Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
OMIM:260920	Hyper-Igd Syndrome
OMIM:260950	Periodontitis, Chronic
OMIM:260970	Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
OMIM:261000	Intrinsic Factor Deficiency
OMIM:261100	Megaloblastic Anemia 1
OMIM:261400	Peroneus Tertius Muscle, Absence Of
OMIM:261500	Eosinophil Peroxidase Deficiency
OMIM:261515	D-Bifunctional Protein Deficiency
OMIM:261540	Peters-Plus Syndrome
OMIM:261550	Persistent Mullerian Duct Syndrome, Types I And Ii
OMIM:261560	Pfeiffer-Palm-Teller Syndrome
OMIM:261575	Phaver Syndrome
OMIM:261590	Phenformin 4-Hydroxylation
OMIM:261600	Phenylketonuria
OMIM:261630	Hyperphenylalaninemia, Bh4-Deficient, C
OMIM:261640	Hyperphenylalaninemia, Bh4-Deficient, A
OMIM:261650	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
OMIM:261670	Glycogen Storage Disease X
OMIM:261680	Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
OMIM:261740	Glycogen Storage Disease Of Heart, Lethal Congenital
OMIM:261750	Glycogen Storage Disease Ixb
OMIM:261800	Pierre Robin Syndrome
OMIM:261900	Pili Torti, Early-Onset
OMIM:261990	Pili Torti And Developmental Delay
OMIM:262000	Bjornstad Syndrome
OMIM:262020	Pilodental Dysplasia With Refractive Errors
OMIM:262190	Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
OMIM:262300	Achromatopsia 3
OMIM:262350	Moved To 194190
OMIM:262400	Isolated Growth Hormone Deficiency, Type Ia
OMIM:262500	Laron Syndrome
OMIM:262600	Pituitary Hormone Deficiency, Combined, 2
OMIM:262650	Kowarski Syndrome
OMIM:262700	Pituitary Hormone Deficiency, Combined, 4
OMIM:262710	Pituitary Dwarfism With Large Sella Turcica
OMIM:262800	Plasma Clot Retraction Factor, Deficiency Of
OMIM:262850	Alpha-2-Plasmin Inhibitor Deficiency
OMIM:262875	Platelet Prostacyclin Receptor Defect
OMIM:262890	Scott Syndrome
OMIM:262900	Pleoconial Myopathy With Salt Craving
OMIM:263000	Interstitial Pneumonitis, Desquamative, Familial
OMIM:263100	Polycystic Kidney, Cataract, And Congenital Blindness
OMIM:263200	Polycystic Kidney Disease, Autosomal Recessive
OMIM:263210	Polycystic Kidney Disease, Potter Type I, With Microbrachycephaly, Hypertelorism, And Brachymelia
OMIM:263300	Polycythemia Vera
OMIM:263400	Erythrocytosis, Familial, 2
OMIM:263450	Polydactyly, Postaxial, Type A5
OMIM:263510	Moved To 613091
OMIM:263520	Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
OMIM:263530	Moved To 613091
OMIM:263540	Polydactyly, Postaxial, With Dental And Vertebral Anomalies
OMIM:263550	Polymyoclonus, Infantile
OMIM:263560	Moved To 214400
OMIM:263570	Polyglucosan Body Disease, Adult Form
OMIM:263600	Polysaccharide, Storage Of Unusual
OMIM:263610	Polyhydramnios, Chronic Idiopathic
OMIM:263630	Polysyndactyly With Cardiac Malformation
OMIM:263650	Popliteal Pterygium Syndrome, Lethal Type
OMIM:263700	Porphyria, Congenital Erythropoietic
OMIM:263750	Postaxial Acrofacial Dysostosis
OMIM:263800	Gitelman Syndrome
OMIM:264010	Prader-Willi Habitus, Osteopenia, And Camptodactyly
OMIM:264050	Prenatal Bowing
OMIM:264060	Prepapillary Vascular Loops
OMIM:264070	Hyperphenylalaninemia, Bh4-Deficient, D
OMIM:264080	Progesterone Resistance
OMIM:264090	Progeroid Syndrome, Neonatal
OMIM:264110	Prolactin Deficiency, Isolated
OMIM:264120	Prolactin Deficiency With Obesity And Enlarged Testes
OMIM:264140	Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
OMIM:264180	Pseudodiastrophic Dysplasia
OMIM:264270	Pseudohermaphroditism, Female, With Skeletal Anomalies
OMIM:264300	17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
OMIM:264350	Pseudohypoaldosteronism, Type I, Autosomal Recessive
OMIM:264420	Fundus Dystrophy, Pseudoinflammatory, Recessive Form
OMIM:264470	Peroxisomal Acyl-Coa Oxidase Deficiency
OMIM:264475	Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
OMIM:264480	Pseudotrisomy 13 Syndrome
OMIM:264500	Pseudouridinuria And Mental Defect
OMIM:264600	Pseudovaginal Perineoscrotal Hypospadias
OMIM:264700	Vitamin D Hydroxylation-Deficient Rickets, Type 1a
OMIM:264800	Pseudoxanthoma Elasticum
OMIM:265000	Multiple Pterygium Syndrome, Escobar Variant
OMIM:265050	3mc Syndrome 2
OMIM:265100	Pulmonary Alveolar Microlithiasis
OMIM:265120	Surfactant Metabolism Dysfunction, Pulmonary, 1
OMIM:265140	Pulmonary Arteriovenous Fistulas
OMIM:265150	Pulmonary Atresia With Intact Ventricular Septum
OMIM:265200	Pulmonary Bullae Causing Pneumothorax
OMIM:265300	Lymphangiectasia, Pulmonary, Congenital
OMIM:265380	Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
OMIM:265400	Pulmonary Hypertension, Primary, Autosomal Recessive
OMIM:265430	Lung Agenesis
OMIM:265450	Pulmonary Venoocclusive Disease 1, Autosomal Dominant
OMIM:265500	Pulmonic Stenosis
OMIM:265800	Pycnodysostosis
OMIM:265850	Pygmy
OMIM:265880	Pyknoachondrogenesis
OMIM:265900	Pyle Disease
OMIM:265950	Pyloric Atresia
OMIM:266100	Epilepsy, Pyridoxine-Dependent
OMIM:266120	Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
OMIM:266130	Glutathione Synthetase Deficiency
OMIM:266140	Pyropoikilocytosis, Hereditary
OMIM:266150	Pyruvate Carboxylase Deficiency
OMIM:266200	Pyruvate Kinase Deficiency Of Red Cells
OMIM:266250	Radiculoneuropathy, Fatal Neonatal
OMIM:266255	Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
OMIM:266265	Congenital Disorder Of Glycosylation, Type Iic
OMIM:266270	Ramon Syndrome
OMIM:266280	Rapadilino Syndrome
OMIM:266300	Skin/Hair/Eye Pigmentation, Variation In, 2
OMIM:266350	Red Skin Pigment Anomaly Of New Guinea
OMIM:266400	Reese Retinal Dysplasia
OMIM:266500	Refsum Disease, Classic
OMIM:266510	Peroxisome Biogenesis Disorder 3b
OMIM:266600	Inflammatory Bowel Disease 1
OMIM:266810	Renal And Mullerian Duct Hypoplasia
OMIM:266900	Senior-Loken Syndrome 1
OMIM:266910	Renal Dysplasia-Limb Defects Syndrome
OMIM:266920	Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
OMIM:267000	Perlman Syndrome
OMIM:267010	Meckel Syndrome, Type 7
OMIM:267200	Renal Tubular Acidosis Iii
OMIM:267300	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
OMIM:267400	Renal, Genital, And Middle Ear Anomalies
OMIM:267430	Renal Tubular Dysgenesis
OMIM:267450	Respiratory Distress Syndrome In Premature Infants
OMIM:267480	Respiratory Underresponsiveness To Hypoxia And Hypercapnia
OMIM:267500	Reticular Dysgenesis
OMIM:267700	Hemophagocytic Lymphohistiocytosis, Familial, 1
OMIM:267730	Reticulum Cell Sarcoma
OMIM:267740	Retinal Degeneration And Epilepsy
OMIM:267750	Knobloch Syndrome 1
OMIM:267760	Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
OMIM:267800	Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
OMIM:267900	Retinal Telangiectasia And Hypogammaglobulinemia
OMIM:268000	Retinitis Pigmentosa
OMIM:268010	Retinitis Pigmentosa Inversa With Deafness
OMIM:268020	Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
OMIM:268025	Retinitis Pigmentosa, Late-Adult Onset
OMIM:268040	Retinohepatoendocrinologic Syndrome
OMIM:268050	Retinopathy, Pigmentary, And Mental Retardation
OMIM:268060	Retinopathy, Pericentral Pigmentary, Autosomal Recessive
OMIM:268080	Retinoschisis Of Fovea
OMIM:268100	Enhanced S-Cone Syndrome
OMIM:268130	Revesz Syndrome
OMIM:268150	Rh-Null, Regulator Type
OMIM:268200	Myoglobinuria, Acute Recurrent, Autosomal Recessive
OMIM:268210	Rhabdomyosarcoma, Embryonal, 1
OMIM:268220	Rhabdomyosarcoma 2
OMIM:268240	Rheumatic Fever-Related Antigen
OMIM:268250	Rhizomelic Syndrome
OMIM:268300	Roberts Syndrome
OMIM:268305	Robin Sequence With Cleft Mandible And Limb Anomalies
OMIM:268310	Robinow Syndrome, Autosomal Recessive
OMIM:268320	Rodrigues Blindness
OMIM:268400	Rothmund-Thomson Syndrome
OMIM:268500	Rowley-Rosenberg Syndrome
OMIM:268650	Rudiger Syndrome
OMIM:268700	Saccharopinuria
OMIM:268800	Sandhoff Disease
OMIM:268850	Richieri-Costa/Guion-Almeida Syndrome
OMIM:268900	Sarcosinemia
OMIM:269000	Sc Phocomelia Syndrome
OMIM:269150	Schinzel-Giedion Midface Retraction Syndrome
OMIM:269160	Schizencephaly
OMIM:269200	Autoimmune Polyendocrine Syndrome, Type Ii
OMIM:269250	Schneckenbecken Dysplasia
OMIM:269300	Schwartz-Lelek Syndrome
OMIM:269400	Sclerocornea, Autosomal Recessive
OMIM:269500	Sclerosteosis 1
OMIM:269600	Sea-Blue Histiocyte Disease
OMIM:269630	Second Metatarsal-Metacarpal Syndrome
OMIM:269650	Secretory Component Deficiency
OMIM:269700	Lipodystrophy, Congenital Generalized, Type 2
OMIM:269720	Seizures, Benign Familial Neonatal, Autosomal Recessive
OMIM:269800	Senile Plaque Formation
OMIM:269840	Selective T-Cell Defect
OMIM:269860	Short-Rib Thoracic Dysplasia 12
OMIM:269870	Short Stature-Obesity Syndrome
OMIM:269880	Short Syndrome
OMIM:269920	Infantile Sialic Acid Storage Disease
OMIM:269921	Sialuria
OMIM:270100	Heterotaxy, Visceral, 5, Autosomal
OMIM:270150	Sjogren Syndrome
OMIM:270200	Sjogren-Larsson Syndrome
OMIM:270220	Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
OMIM:270300	Peeling Skin Syndrome
OMIM:270350	Skunk N-Butylmercaptan, Inability To Smell
OMIM:270400	Smith-Lemli-Opitz Syndrome
OMIM:270420	Diarrhea 3, Secretory Sodium, Congenital
OMIM:270425	Sodium-Potassium-Atpase Activity Of Red Cell
OMIM:270450	Insulin-Like Growth Factor I, Resistance To
OMIM:270460	Sonoda Syndrome
OMIM:270500	Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
OMIM:270550	Spastic Ataxia, Charlevoix-Saguenay Type
OMIM:270600	Spastic Diplegia, Infantile Type
OMIM:270685	Spastic Paraplegia 17, Autosomal Dominant
OMIM:270700	Spastic Paraplegia 15, Autosomal Recessive
OMIM:270710	Fitzsimmons-Guilbert Syndrome
OMIM:270750	Spastic Paraplegia 23
OMIM:270800	Spastic Paraplegia 5a, Autosomal Recessive
OMIM:270850	Spastic Paresis, Glaucoma, And Mental Retardation
OMIM:270900	Spastic Pseudosclerosis
OMIM:270950	Spastic Quadriplegia, Retinitis Pigmentosa, And Mental Retardation
OMIM:270960	Spermatogenic Failure 4
OMIM:270970	Spherocytosis, Type 3
OMIM:271109	Spinal Muscular Atrophy With Mental Retardation
OMIM:271110	Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
OMIM:271150	Spinal Muscular Atrophy, Type Iv
OMIM:271200	Spinal Muscular Atrophy, Ryukyuan Type
OMIM:271220	Spinal Muscular Atrophy, Scapuloperoneal
OMIM:271225	Spinal Muscular Atrophy, Type I, With Congenital Bone Fractures
OMIM:271245	Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
OMIM:271250	Spinocerebellar Ataxia, Autosomal Recessive 3
OMIM:271270	Spinocerebellar Ataxia With Dysmorphism
OMIM:271310	Spinocerebellar Degeneration And Corneal Dystrophy
OMIM:271320	Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
OMIM:271322	Spinocerebellar Degeneration With Slow Eye Movements
OMIM:271400	Asplenia, Isolated Congenital
OMIM:271500	Splenoportal Vascular Anomalies
OMIM:271510	Spondyloepimetaphyseal Dysplasia, Sponastrime Type
OMIM:271520	Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
OMIM:271530	Brachyolmia Type 1, Hobaek Type
OMIM:271550	Spondyloenchondrodysplasia
OMIM:271600	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
OMIM:271620	Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
OMIM:271630	Brachyolmia Type 1, Toledo Type
OMIM:271640	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
OMIM:271650	Spondyloepimetaphyseal Dysplasia, Irapa Type
OMIM:271665	Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
OMIM:271700	Spondyloperipheral Dysplasia
OMIM:271900	Canavan Disease
OMIM:271930	Striatonigral Degeneration, Infantile
OMIM:271950	Subaortic Stenosis, Membranous
OMIM:271960	Subaortic Stenosis--Short Stature Syndrome
OMIM:271980	Succinic Semialdehyde Dehydrogenase Deficiency
OMIM:272000	Sucrosuria, Hiatus Hernia And Mental Retardation
OMIM:272100	Sudanophilic Cerebral Sclerosis
OMIM:272120	Sudden Infant Death Syndrome
OMIM:272150	Sugarman Brachydactyly
OMIM:272200	Multiple Sulfatase Deficiency
OMIM:272300	Sulfocysteinuria
OMIM:272350	Summitt Syndrome
OMIM:272370	Susceptibility To Lysis By Alloreactive Natural Killer Cells
OMIM:272430	Cold-Induced Sweating Syndrome 1
OMIM:272440	Syndactyly, Type I, With Microcephaly And Mental Retardation
OMIM:272450	Syndesmodysplasic Dwarfism
OMIM:272460	Spondylocarpotarsal Synostosis Syndrome
OMIM:272550	Moved To 138500
OMIM:272600	Tapetoretinal Degeneration With Ataxia
OMIM:272620	Tardive Dyskinesia
OMIM:272650	Tatsumi Factor Deficiency
OMIM:272700	Taurodontism
OMIM:272750	Gm2-Gangliosidosis, Ab Variant
OMIM:272800	Tay-Sachs Disease
OMIM:272950	Teebi-Shaltout Syndrome
OMIM:272980	Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
OMIM:273000	Teeth, Fused
OMIM:273050	Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
OMIM:273120	Teratoma, Pineal
OMIM:273150	Testes, Rudimentary
OMIM:273250	Testicular Regression Syndrome
OMIM:273300	Testicular Germ Cell Tumor
OMIM:273390	Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
OMIM:273395	Tetraamelia, Autosomal Recessive
OMIM:273400	Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
OMIM:273490	Thalamic Degeneration, Symmetric Infantile
OMIM:273600	Thalidomide Susceptibility
OMIM:273680	Thanatophoric Dysplasia, Glasgow Variant
OMIM:273730	Thoracic Dysplasia-Hydrocephalus Syndrome
OMIM:273740	Thoracomelic Dysplasia
OMIM:273750	Three M Syndrome 1
OMIM:273770	Threoninemia
OMIM:273800	Glanzmann Thrombasthenia
OMIM:273900	Thrombocytopenia 3
OMIM:274000	Thrombocytopenia-Absent Radius Syndrome
OMIM:274150	Thrombotic Thrombocytopenic Purpura, Congenital
OMIM:274190	Thumb Agenesis, Short Stature, And Immunodeficiency
OMIM:274200	Thumb, Distal Hyperextensibility Of
OMIM:274205	Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
OMIM:274210	Thymic Aplasia With Fetal Death
OMIM:274230	Thymoma, Familial
OMIM:274240	Thyrocerebroretinal Syndrome
OMIM:274265	Thymic-Renal-Anal-Lung Dysplasia
OMIM:274270	Dihydropyrimidine Dehydrogenase Deficiency
OMIM:274300	Thyroid Hormone Resistance, Generalized, Autosomal Recessive
OMIM:274400	Thyroid Dyshormonogenesis 1
OMIM:274500	Thyroid Dyshormonogenesis 2a
OMIM:274600	Pendred Syndrome
OMIM:274700	Thyroid Dyshormonogenesis 3
OMIM:274800	Thyroid Dyshormonogenesis 4
OMIM:274900	Thyroid Dyshormonogenesis 5
OMIM:275000	Graves Disease
OMIM:275100	Hypothyroidism, Congenital, Nongoitrous, 4
OMIM:275120	Thyrotropin-Releasing Hormone Deficiency
OMIM:275190	Tiglic Acidemia
OMIM:275200	Hypothyroidism, Congenital, Nongoitrous, 1
OMIM:275210	Restrictive Dermopathy, Lethal
OMIM:275220	Tibial Hemimelia
OMIM:275230	Tibia, Absence Of, With Congenital Deafness
OMIM:275240	Tinea Imbricata, Susceptibility To
OMIM:275250	Tongue, Pigmented Fungiform Papillae Of
OMIM:275300	Tracheobronchomegaly
OMIM:275350	Transcobalamin Ii Deficiency
OMIM:275355	Squamous Cell Carcinoma, Head And Neck
OMIM:275370	Tricarboxylic Acid Cycle, Defect Of
OMIM:275400	Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina
OMIM:275450	Trichoodontoonychial Dysplasia With Bone Deficiency
OMIM:275550	Trichorrhexis Nodosa Syndrome
OMIM:275595	Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
OMIM:275630	Chanarin-Dorfman Syndrome
OMIM:275900	Spastic Paraplegia 20, Autosomal Recessive
OMIM:276100	Tryptophanuria With Dwarfism
OMIM:276200	T-Substance Anomaly
OMIM:276300	Mismatch Repair Cancer Syndrome
OMIM:276600	Tyrosinemia, Type Ii
OMIM:276700	Tyrosinemia, Type I
OMIM:276710	Tyrosinemia, Type Iii
OMIM:276800	Tyrosinosis
OMIM:276820	Ulna And Fibula, Absence Of, With Severe Limb Deficiency
OMIM:276821	Ulnar Hypoplasia With Mental Retardation
OMIM:276822	Ulnar Agenesis And Endocardial Fibroelastosis
OMIM:276880	Urocanase Deficiency
OMIM:276900	Usher Syndrome, Type I
OMIM:276901	Usher Syndrome, Type Iia
OMIM:276902	Usher Syndrome, Type Iiia
OMIM:276904	Usher Syndrome, Type Ic
OMIM:276950	Vacterl Association With Hydrocephalus
OMIM:277000	Mayer-Rokitansky-Kuster-Hauser Syndrome
OMIM:277100	Valinemia
OMIM:277150	Van Bogaert-Hozay Syndrome
OMIM:277170	Orofaciodigital Syndrome Vi
OMIM:277175	Vascular Hyalinosis
OMIM:277180	Vas Deferens, Congenital Bilateral Aplasia Of
OMIM:277200	Right Ventricular Hypoplasia, Isolated
OMIM:277300	Spondylocostal Dysostosis 1, Autosomal Recessive
OMIM:277320	Visceral Myopathy, Familial, With External Ophthalmoplegia
OMIM:277350	Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
OMIM:277380	Methylmalonic Aciduria And Homocystinuria, Cblf Type
OMIM:277400	Methylmalonic Aciduria And Homocystinuria, Cblc Type
OMIM:277410	Methylmalonic Aciduria And Homocystinuria, Cbld Type
OMIM:277440	Vitamin D-Dependent Rickets, Type 2a
OMIM:277450	Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
OMIM:277460	Vitamin E, Familial Isolated Deficiency Of
OMIM:277465	Vitiligo, Progressive, With Mental Retardation And Urethral Duplication
OMIM:277470	Pontocerebellar Hypoplasia, Type 2a
OMIM:277480	Von Willebrand Disease, Type 3
OMIM:277580	Waardenburg Syndrome, Type 4a
OMIM:277590	Weaver Syndrome
OMIM:277600	Weill-Marchesani Syndrome 1
OMIM:277610	Weissenbacher-Zweymuller Syndrome
OMIM:277700	Werner Syndrome
OMIM:277720	Whistling Face Syndrome, Recessive Form
OMIM:277730	Wernicke-Korsakoff Syndrome
OMIM:277740	White Forelock With Malformations
OMIM:277900	Wilson Disease
OMIM:277970	Wiskott-Aldrich Syndrome
OMIM:277990	Wolff Mental Retardation Syndrome
OMIM:278000	Lysosomal Acid Lipase Deficiency
OMIM:278100	Wolman Disease With Hypolipoproteinemia And Acanthocytosis
OMIM:278150	Hypotrichosis 8
OMIM:278200	Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
OMIM:278250	Wrinkly Skin Syndrome
OMIM:278300	Xanthinuria, Type I
OMIM:278700	Xeroderma Pigmentosum, Complementation Group A
OMIM:278720	Xeroderma Pigmentosum, Complementation Group C
OMIM:278730	Xeroderma Pigmentosum, Complementation Group D
OMIM:278740	Xeroderma Pigmentosum, Complementation Group E
OMIM:278750	Xeroderma Pigmentosum, Variant Type
OMIM:278760	Xeroderma Pigmentosum, Complementation Group F
OMIM:278780	Xeroderma Pigmentosum, Complementation Group G
OMIM:278800	De Sanctis-Cacchione Syndrome
OMIM:278810	Moved To 278720
OMIM:278850	46,Xx Sex Reversal 2
OMIM:278900	Xylosidase Deficiency
OMIM:279000	Young Syndrome
OMIM:280000	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
OMIM:300000	Opitz Gbbb Syndrome, X-Linked
OMIM:300004	Corpus Callosum, Agenesis Of, With Abnormal Genitalia
OMIM:300009	Dent Disease 1
OMIM:300018	46,Xy Sex Reversal 2
OMIM:300029	Retinitis Pigmentosa 3
OMIM:300030	Deafness, X-Linked 3
OMIM:300033	Forkhead Box O4
OMIM:300042	Alopecia, Congenital
OMIM:300046	Mental Retardation, X-Linked 23
OMIM:300047	Mental Retardation, X-Linked 20
OMIM:300048	Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
OMIM:300049	Heterotopia, Periventricular, X-Linked Dominant
OMIM:300055	Mental Retardation, X-Linked, Syndromic 13
OMIM:300062	Mental Retardation, X-Linked 14
OMIM:300064	Mental Retardation, X-Linked, With Craniofacial Dysmorphism
OMIM:300066	Deafness, X-Linked 4
OMIM:300067	Lissencephaly, X-Linked, 1
OMIM:300068	Androgen Insensitivity Syndrome
OMIM:300071	Night Blindness, Congenital Stationary, Type 2a
OMIM:300073	Fetal Akinesia Syndrome, X-Linked
OMIM:300076	Immunoneurologic Disorder, X-Linked
OMIM:300082	Cognitive Function 1, Social
OMIM:300085	Cone-Rod Dystrophy, X-Linked, 2
OMIM:300087	X Inactivation, Familial Skewed, 1
OMIM:300088	Epileptic Encephalopathy, Early Infantile, 9
OMIM:300100	Adrenoleukodystrophy
OMIM:300106	Spondyloepimetaphyseal Dysplasia, X-Linked
OMIM:300114	Mental Retardation, X-Linked 49
OMIM:300115	Mental Retardation, X-Linked 50
OMIM:300123	Mental Retardation, X-Linked, With Panhypopituitarism
OMIM:300125	Migraine, Familial Typical, Susceptibility To, 2
OMIM:300143	Mental Retardation, X-Linked 21
OMIM:300147	Prostate Cancer, Hereditary, X-Linked 1
OMIM:300148	Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity
OMIM:300155	Retinitis Pigmentosa 24
OMIM:300158	Arthrogryposis, Congenital, Lower Limb, X-Linked
OMIM:300166	Microphthalmia, Syndromic 2
OMIM:300194	Amme Complex
OMIM:300200	Adrenal Hypoplasia, Congenital
OMIM:300209	Simpson-Golabi-Behmel Syndrome, Type 2
OMIM:300210	Mental Retardation, X-Linked 58
OMIM:300211	Episodic Muscle Weakness, X-Linked
OMIM:300215	Lissencephaly, X-Linked, 2
OMIM:300216	Coats Disease
OMIM:300218	Mental Retardation, X-Linked, Syndromic 7
OMIM:300220	Mental Retardation, X-Linked, Syndromic 10
OMIM:300228	Testicular Germ Cell Tumor 1
OMIM:300232	Spondyloepimetaphyseal Dysplasia, X-Linked, With Mental Deterioration
OMIM:300238	Mental Retardation, X-Linked, Syndromic 11
OMIM:300240	Moved To 305000
OMIM:300243	Mental Retardation, X-Linked, Syndromic, Christianson Type
OMIM:300244	Terminal Osseous Dysplasia
OMIM:300245	Ptosis, Hereditary Congenital 2
OMIM:300250	Moved To 202200
OMIM:300257	Danon Disease
OMIM:300258	Roifman Syndrome
OMIM:300260	Lubs X-Linked Mental Retardation Syndrome
OMIM:300261	Armfield X-Linked Mental Retardation Syndrome
OMIM:300262	Abidi X-Linked Mental Retardation Syndrome
OMIM:300263	Siderius X-Linked Mental Retardation Syndrome
OMIM:300266	Spastic Paraplegia 16, X-Linked
OMIM:300270	Adrenomyodystrophy
OMIM:300271	Mental Retardation, X-Linked 72
OMIM:300273	Goiter, Multinodular 2
OMIM:300280	Uruguay Faciocardiomusculoskeletal Syndrome
OMIM:300290	Moved To 614732
OMIM:300291	Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
OMIM:300299	Neutropenia, Severe Congenital, X-Linked
OMIM:300301	Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
OMIM:300310	Agammaglobulinemia, X-Linked, Type 2
OMIM:300321	Fg Syndrome 2
OMIM:300322	Lesch-Nyhan Syndrome
OMIM:300323	Kelley-Seegmiller Syndrome
OMIM:300331	Thrombocythemia, X-Linked
OMIM:300337	Hypomelanosis Of Ito
OMIM:300352	Cerebral Creatine Deficiency Syndrome 1
OMIM:300354	Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
OMIM:300355	Mental Retardation, X-Linked 73
OMIM:300360	Mental Retardation, X-Linked, With Short Stature
OMIM:300367	Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
OMIM:300373	Osteopathia Striata With Cranial Sclerosis
OMIM:300376	Muscular Dystrophy, Becker Type
OMIM:300387	Mental Retardation, X-Linked 63
OMIM:300388	Polymicrogyria, Bilateral Perisylvian
OMIM:300400	Severe Combined Immunodeficiency, X-Linked
OMIM:300419	Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
OMIM:300421	Wittwer Syndrome
OMIM:300422	Fg Syndrome 4
OMIM:300423	Mental Retardation, X-Linked, Syndromic, Hedera Type
OMIM:300424	Retinitis Pigmentosa 23
OMIM:300425	Autism, Susceptibility To, X-Linked 1
OMIM:300431	Atkin-Flaitz Syndrome
OMIM:300434	Stocco Dos Santos X-Linked Mental Retardation Syndrome
OMIM:300436	Mental Retardation, X-Linked 46
OMIM:300438	17-Beta-Hydroxysteroid Dehydrogenase X Deficiency
OMIM:300448	Alpha-Thalassemia Myelodysplasia Syndrome
OMIM:300455	Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
OMIM:300471	Cubitus Valgus With Mental Retardation And Unusual Facies
OMIM:300472	Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia
OMIM:300475	Deafness, Dystonia, And Cerebral Hypomyelination
OMIM:300476	Cone-Rod Dystrophy, X-Linked, 3
OMIM:300484	Orofaciodigital Syndrome Viii
OMIM:300486	Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
OMIM:300488	Menopause, Natural, Age At, Quantitative Trait Locus 1
OMIM:300489	Spinal Muscular Atrophy, Distal, X-Linked 3
OMIM:300491	Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders
OMIM:300494	Asperger Syndrome, X-Linked, Susceptibility To, 1
OMIM:300495	Autism, Susceptibility To, X-Linked 2
OMIM:300496	Autism, Susceptibility To, X-Linked 3
OMIM:300497	Asperger Syndrome, X-Linked, Susceptibility To, 2
OMIM:300498	Mental Retardation, X-Linked 45
OMIM:300500	Albinism, Ocular, Type I
OMIM:300510	Ovarian Dysgenesis 2
OMIM:300511	Premature Ovarian Failure 2a
OMIM:300514	Fanconi Anemia, Complementation Group B
OMIM:300519	Mental Retardation, X-Linked, Syndromic, Martin-Probst Type
OMIM:300523	Allan-Herndon-Dudley Syndrome
OMIM:300534	Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
OMIM:300537	Heterotopia, Periventricular, Ehlers-Danlos Variant
OMIM:300539	Nephrogenic Syndrome Of Inappropriate Antidiuresis
OMIM:300554	Hypophosphatemic Rickets, X-Linked Recessive
OMIM:300555	Dent Disease 2
OMIM:300558	Mental Retardation, X-Linked 30
OMIM:300559	Glycogen Storage Disease, Type Ixd
OMIM:300577	Mental Retardation, X-Linked 91
OMIM:300578	Chromosome Xp11.3 Deletion Syndrome
OMIM:300580	Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
OMIM:300582	Short Stature, Idiopathic, X-Linked
OMIM:300584	Immunodeficiency Without Anhidrotic Ectodermal Dysplasia
OMIM:300589	Nystagmus 5, Congenital, X-Linked
OMIM:300590	Cornelia De Lange Syndrome 2
OMIM:300600	Aland Island Eye Disease
OMIM:300602	Clark-Baraitser Syndrome
OMIM:300604	Premature Ovarian Failure 2b
OMIM:300607	Epileptic Encephalopathy, Early Infantile, 8
OMIM:300612	Brooks-Wisniewski-Brown Syndrome
OMIM:300614	Deafness, X-Linked 5
OMIM:300619	Cataract, Ataxia, Short Stature, And Mental Retardation
OMIM:300622	Tn Polyagglutination Syndrome
OMIM:300623	Fragile X Tremor/Ataxia Syndrome
OMIM:300624	Fragile X Mental Retardation Syndrome
OMIM:300630	Mental Retardation, X-Linked, Syndromic, Fried Type
OMIM:300633	Hypospadias 1, X-Linked
OMIM:300635	Lymphoproliferative Syndrome, X-Linked, 2
OMIM:300640	Invasive Pneumococcal Disease, Recurrent Isolated, 2
OMIM:300643	Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked
OMIM:300645	Atypical Mycobacteriosis, Familial, X-Linked 2
OMIM:300650	Albinism, Ocular, With Late-Onset Sensorineural Deafness
OMIM:300652	Angioma Serpiginosum, X-Linked
OMIM:300653	Phosphoglycerate Kinase 1 Deficiency
OMIM:300659	Mental Retardation, X-Linked 93
OMIM:300660	Leukoencephalopathy With Metaphyseal Chondrodysplasia
OMIM:300661	Phosphoribosylpyrophosphate Synthetase Superactivity
OMIM:300672	Epileptic Encephalopathy, Early Infantile, 2
OMIM:300673	Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
OMIM:300676	Mental Retardation, X-Linked, Syndromic 14
OMIM:300695	Scapuloperoneal Myopathy, X-Linked Dominant
OMIM:300696	Myopathy, X-Linked, With Postural Muscle Atrophy
OMIM:300699	Mental Retardation, X-Linked, Syndromic, Wu Type
OMIM:300700	Albinism-Deafness Syndrome
OMIM:300703	Spinocerebellar Ataxia, X-Linked 5
OMIM:300705	Mental Retardation, X-Linked 17
OMIM:300706	Mental Retardation, X-Linked, Syndromic, Turner Type
OMIM:300707	Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
OMIM:300709	Mental Retardation, X-Linked, Syndromic 9
OMIM:300712	Craniofacioskeletal Syndrome
OMIM:300716	Mental Retardation, X-Linked 95
OMIM:300717	Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
OMIM:300718	Myopathy, Reducing Body, X-Linked, Childhood-Onset
OMIM:300719	Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
OMIM:300749	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
OMIM:300750	Spastic Paraplegia 34, X-Linked
OMIM:300751	Anemia, Sideroblastic, X-Linked
OMIM:300752	Protoporphyria, Erythropoietic, X-Linked
OMIM:300755	Agammaglobulinemia, X-Linked
OMIM:300758	Hypospadias 2, X-Linked
OMIM:300770	Surfactant Metabolism Dysfunction, Pulmonary, 4
OMIM:300778	Corneal Dystrophy, Lisch Epithelial
OMIM:300779	Corneal Dystrophy, Endothelial, X-Linked
OMIM:300799	Mental Retardation, X-Linked, Syndromic, Raymond Type
OMIM:300801	Chromosome Xp11.23-P11.22 Duplication Syndrome
OMIM:300802	Mental Retardation, X-Linked 96
OMIM:300803	Mental Retardation, X-Linked 97
OMIM:300804	Joubert Syndrome 10
OMIM:300807	Thrombophilia, X-Linked, Due To Factor Ix Defect
OMIM:300813	Sarcoma, Synovial
OMIM:300814	Nystagmus 6, Congenital, X-Linked
OMIM:300815	Chromosome Xq28 Duplication Syndrome
OMIM:300816	Combined Oxidative Phosphorylation Deficiency 6
OMIM:300818	Paroxysmal Nocturnal Hemoglobinuria 1
OMIM:300831	Ck Syndrome
OMIM:300833	46,Xx Sex Reversal 3
OMIM:300834	Macular Degeneration, X-Linked Atrophic
OMIM:300835	Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
OMIM:300842	Mcleod Syndrome
OMIM:300843	Bornholm Eye Disease
OMIM:300844	Mental Retardation, X-Linked 19
OMIM:300845	Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
OMIM:300848	Mental Retardation, X-Linked 89
OMIM:300849	Mental Retardation, X-Linked 41
OMIM:300850	Mental Retardation, X-Linked 90
OMIM:300851	Mental Retardation, X-Linked 92
OMIM:300852	Mental Retardation, X-Linked 88
OMIM:300853	Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
OMIM:300854	Renal Cell Carcinoma, Xp11-Associated
OMIM:300855	Ogden Syndrome
OMIM:300857	Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia
OMIM:300858	Mental Retardation, X-Linked, Syndromic 17
OMIM:300860	Mental Retardation, X-Linked, Syndromic, Nascimento Type
OMIM:300861	Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
OMIM:300863	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
OMIM:300864	Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
OMIM:300867	Kabuki Syndrome 2
OMIM:300868	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
OMIM:300869	Chromosome Xq27.3-Q28 Duplication Syndrome
OMIM:300872	Epsilon-Trimethyllysine Hydroxylase Deficiency
OMIM:300881	Baratela-Scott Syndrome
OMIM:300882	Cornelia De Lange Syndrome 5
OMIM:300884	Congenital Disorder Of Glycosylation, Type Is
OMIM:300886	Mental Retardation, X-Linked, Syndromic 32
OMIM:300887	Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies
OMIM:300888	Hypothyroidism, Central, And Testicular Enlargement
OMIM:300894	Neurodegeneration With Brain Iron Accumulation 5
OMIM:300895	Ohdo Syndrome, X-Linked
OMIM:300896	Congenital Disorder Of Glycosylation, Type Iim
OMIM:300905	Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
OMIM:300908	Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency
OMIM:300909	Angioedema Induced By Ace Inhibitors, Susceptibility To
OMIM:300910	Bone Mineral Density Quantitative Trait Locus 18
OMIM:300911	Parkinsonism With Spasticity, X-Linked
OMIM:300912	Mental Retardation, X-Linked 98
OMIM:300914	Deafness, X-Linked 6
OMIM:300915	Microphthalmia, Syndromic 13
OMIM:301000	Wiskott-Aldrich Syndrome
OMIM:301040	Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
OMIM:301050	Alport Syndrome, X-Linked
OMIM:301090	Moved To 273395
OMIM:301200	Amelogenesis Imperfecta, Type Ie
OMIM:301201	Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
OMIM:301220	Pigmentary Disorder, Reticulate, With Systemic Manifestations
OMIM:301310	Anemia, Sideroblastic, And Spinocerebellar Ataxia
OMIM:301410	Neural Tube Defects, X-Linked
OMIM:301500	Fabry Disease
OMIM:301590	Microphthalmia, Syndromic 4
OMIM:301700	Anosmia
OMIM:301790	Spinocerebellar Ataxia, X-Linked 3
OMIM:301800	Anus, Imperforate
OMIM:301815	Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, And Developmental Delay
OMIM:301830	Spinal Muscular Atrophy, X-Linked 2
OMIM:301835	Arts Syndrome
OMIM:301840	Spinocerebellar Ataxia, X-Linked 4
OMIM:301845	Bazex Syndrome
OMIM:301900	Borjeson-Forssman-Lehmann Syndrome
OMIM:301940	Brachydactyly, Mononen Type
OMIM:301950	Branchial Arch Syndrome, X-Linked
OMIM:302000	Bullous Dystrophy, Hereditary Macular Type
OMIM:302020	Calbindin 3
OMIM:302030	Calvarial Hyperostosis
OMIM:302045	Cardiomyopathy, Dilated, 3b
OMIM:302060	Barth Syndrome
OMIM:302200	Cataract 40
OMIM:302300	Moved To 302200
OMIM:302350	Nance-Horan Syndrome
OMIM:302380	Catel-Manzke Syndrome
OMIM:302400	Central Incisors, Absence Of
OMIM:302500	Spinocerebellar Ataxia, X-Linked 1
OMIM:302600	Spinocerebellar Ataxia, X-Linked 2
OMIM:302650	Cerebellar Degeneration-Related Autoantigen 1
OMIM:302700	Cerebral Sclerosis, Diffuse, Scholz Type
OMIM:302800	Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
OMIM:302801	Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
OMIM:302802	Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
OMIM:302803	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita
OMIM:302900	Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
OMIM:302905	Abruzzo-Erickson Syndrome
OMIM:302950	Chondrodysplasia Punctata 1, X-Linked Recessive
OMIM:302960	Chondrodysplasia Punctata 2, X-Linked Dominant
OMIM:303100	Choroideremia
OMIM:303110	Choroideremia, Deafness, And Mental Retardation
OMIM:303350	Masa Syndrome
OMIM:303400	Cleft Palate With Or Without Ankyloglossia, X-Linked
OMIM:303600	Coffin-Lowry Syndrome
OMIM:303650	Colonic Atresia
OMIM:303700	Blue Cone Monochromacy
OMIM:303800	Colorblindness, Partial, Deutan Series
OMIM:303900	Colorblindness, Partial, Protan Series
OMIM:304000	Moved To 613522
OMIM:304020	Cone-Rod Dystrophy, X-Linked, 1
OMIM:304030	Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
OMIM:304050	Aicardi Syndrome
OMIM:304100	Corpus Callosum, Partial Agenesis Of, X-Linked
OMIM:304110	Craniofrontonasal Syndrome
OMIM:304120	Otopalatodigital Syndrome, Type Ii
OMIM:304150	Occipital Horn Syndrome
OMIM:304200	Cutis Verticis Gyrata, Thyroid Aplasia, And Mental Retardation
OMIM:304300	Cyanide, Inability To Smell
OMIM:304340	Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures
OMIM:304400	Deafness, X-Linked 2
OMIM:304500	Deafness, X-Linked 1
OMIM:304590	Moved To 304500
OMIM:304700	Mohr-Tranebjaerg Syndrome
OMIM:304730	Dermoids Of Cornea
OMIM:304790	Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
OMIM:304800	Diabetes Insipidus, Nephrogenic, X-Linked
OMIM:304900	Diabetes Insipidus, Neurohypophyseal Type
OMIM:304950	Dyggve-Melchior-Clausen Syndrome, X-Linked
OMIM:305000	Dyskeratosis Congenita, X-Linked
OMIM:305100	Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
OMIM:305200	Ehlers-Danlos Syndrome, Type V
OMIM:305300	Moved To 302060
OMIM:305350	Epidermodysplasia Verruciformis, X-Linked
OMIM:305390	Exudative Vitreoretinopathy 2, X-Linked
OMIM:305400	Aarskog-Scott Syndrome
OMIM:305435	Fetal Hemoglobin Quantitative Trait Locus 3
OMIM:305450	Opitz-Kaveggia Syndrome
OMIM:305550	Fingerprint Body Myopathy
OMIM:305600	Focal Dermal Hypoplasia
OMIM:305620	Frontometaphyseal Dysplasia
OMIM:305660	Gamma-Aminobutyric Acid Receptor, Alpha-3
OMIM:305670	Gastrin-Releasing Peptide Receptor
OMIM:305690	Genitourinary Tract Anomalies
OMIM:305700	Spermatogenic Failure, X-Linked, 1
OMIM:305800	Membranoproliferative Glomerulonephritis, X-Linked
OMIM:306000	Glycogen Storage Disease Ixa1
OMIM:306100	Moved To 400044
OMIM:306300	Granulomas, Congenital Cerebral
OMIM:306400	Granulomatous Disease, Chronic, X-Linked
OMIM:306500	Gynecomastia, Familial
OMIM:306700	Hemophilia A
OMIM:306800	Hemophilia A With Vascular Abnormality
OMIM:306900	Hemophilia B
OMIM:306930	Hemopoietic Proliferation
OMIM:306950	Hernia, Anterior Diaphragmatic
OMIM:306955	Heterotaxy, Visceral, 1, X-Linked
OMIM:306960	Hhhh Syndrome
OMIM:306970	Moved To 426000
OMIM:306980	Hirschsprung Disease With Type D Brachydactyly
OMIM:306990	Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
OMIM:306995	Homosexuality 1
OMIM:307000	Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
OMIM:307010	Hydrocephalus With Cerebellar Agenesis
OMIM:307030	Glycerol Kinase Deficiency
OMIM:307150	Hypertrichosis, Congenital Generalized
OMIM:307200	Isolated Growth Hormone Deficiency, Type Iii
OMIM:307300	Hypogonadism, Male
OMIM:307500	Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
OMIM:307700	Hypoparathyroidism, X-Linked
OMIM:307800	Hypophosphatemic Rickets, X-Linked Dominant
OMIM:307830	Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
OMIM:308050	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
OMIM:308100	Ichthyosis, X-Linked
OMIM:308200	Ichthyosis And Male Hypogonadism
OMIM:308205	Ifap Syndrome With Or Without Bresheck Syndrome
OMIM:308220	Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
OMIM:308230	Immunodeficiency With Hyper-Igm, Type 1
OMIM:308240	Lymphoproliferative Syndrome, X-Linked, 1
OMIM:308250	Immunoglobulin M, Level Of
OMIM:308280	Impacted Teeth, Multiple
OMIM:308300	Incontinentia Pigmenti
OMIM:308350	Epileptic Encephalopathy, Early Infantile, 1
OMIM:308500	Iris Hypoplasia With Glaucoma
OMIM:308600	Jaundice, Familial Obstructive, Of Infancy
OMIM:308700	Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
OMIM:308750	Kallmann Syndrome With Spastic Paraplegia
OMIM:308800	Keratosis Follicularis Spinulosa Decalvans, X-Linked
OMIM:308830	Keratosis Follicularis, Dwarfism, And Cerebral Atrophy
OMIM:308850	Laryngeal Abductor Paralysis
OMIM:308905	Leber Optic Atrophy, Susceptibility To
OMIM:308930	Leigh Syndrome, X-Linked
OMIM:308940	Leiomyomatosis, Diffuse, With Alport Syndrome
OMIM:308950	Lesch-Nyhan Phenotype With Normal Hgprt
OMIM:308960	Leukemia, Acute, ?X-Linked
OMIM:308990	Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
OMIM:309000	Lowe Oculocerebrorenal Syndrome
OMIM:309050	Lutheran Suppressor, X-Linked
OMIM:309100	Macular Dystrophy, X-Linked
OMIM:309120	Spermatogenic Failure, X-Linked, 2
OMIM:309200	Major Affective Disorder 2
OMIM:309300	Megalocornea
OMIM:309350	Melnick-Needles Syndrome
OMIM:309400	Menkes Disease
OMIM:309480	Mental Retardation And Psoriasis
OMIM:309500	Renpenning Syndrome 1
OMIM:309510	Partington X-Linked Mental Retardation Syndrome
OMIM:309520	Lujan-Fryns Syndrome
OMIM:309530	Mental Retardation, X-Linked 1
OMIM:309541	Methylmalonic Acidemia And Homocysteinemia, Cblx Type
OMIM:309545	Mental Retardation, X-Linked, Syndromic 12
OMIM:309548	Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
OMIM:309549	Mental Retardation, X-Linked 9
OMIM:309555	Mental Retardation With Optic Atrophy, Deafness, And Seizures
OMIM:309560	Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
OMIM:309580	Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
OMIM:309583	Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
OMIM:309585	Wilson-Turner X-Linked Mental Retardation Syndrome
OMIM:309605	Miles-Carpenter X-Linked Mental Retardation Syndrome
OMIM:309610	Prieto X-Linked Mental Retardation Syndrome
OMIM:309620	Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
OMIM:309630	Metacarpal 4-5 Fusion
OMIM:309640	Mental Retardation With Spastic Paraplegia
OMIM:309700	Moved To 310600
OMIM:309800	Microphthalmia, Syndromic 1
OMIM:309801	Microphthalmia, Syndromic 7
OMIM:309840	Modifier, X-Linked, For Neurofunctional Defects
OMIM:309850	Monoamine Oxidase A
OMIM:309860	Monoamine Oxidase B
OMIM:309900	Mucopolysaccharidosis, Type Ii
OMIM:309930	Muscular Dystrophy, Cardiac Type
OMIM:309950	Muscular Dystrophy, Hemizygous Lethal Type
OMIM:310000	Muscular Dystrophy, Mabry Type
OMIM:310095	Muscular Dystrophy, Progressive Pectorodorsal
OMIM:310200	Muscular Dystrophy, Duchenne Type
OMIM:310300	Emery-Dreifuss Muscular Dystrophy 1, X-Linked
OMIM:310350	Myelolymphatic Insufficiency
OMIM:310370	Myoclonic Epilepsy, Progressive
OMIM:310400	Myopathy, Centronuclear, X-Linked
OMIM:310440	Myopathy, X-Linked, With Excessive Autophagy
OMIM:310460	Myopia 1, X-Linked
OMIM:310465	N Syndrome
OMIM:310468	Nephrolithiasis, X-Linked Recessive, With Renal Failure
OMIM:310470	Neuropathy, Hereditary Sensory, X-Linked
OMIM:310490	Cowchock Syndrome
OMIM:310500	Night Blindness, Congenital Stationary, Type 1a
OMIM:310600	Norrie Disease
OMIM:310700	Nystagmus 1, Congenital, X-Linked
OMIM:310800	Nystagmus, Myoclonic
OMIM:310900	Occipital Hair, White Lock Of
OMIM:310980	Omphalocele, X-Linked
OMIM:311000	Ophthalmoplegia, External, And Myopia
OMIM:311010	V-Raf Murine Sarcoma 3611 Viral Oncogene Homolog 1
OMIM:311030	Mcf.2 Cell Line-Derived Transforming Sequence
OMIM:311040	Elk1, Member Of Ets Oncogene Family
OMIM:311050	Optic Atrophy 2
OMIM:311070	Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
OMIM:311100	Optic Atrophy--Spastic Paraplegia Syndrome
OMIM:311150	Opticoacoustic Nerve Atrophy With Dementia
OMIM:311200	Orofaciodigital Syndrome I
OMIM:311250	Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
OMIM:311280	Moved To 300373
OMIM:311300	Otopalatodigital Syndrome, Type I
OMIM:311350	Ouabain Resistance
OMIM:311360	Premature Ovarian Failure 1
OMIM:311400	Paine Syndrome
OMIM:311450	Pallister W Syndrome
OMIM:311510	Parkinsonism, Early-Onset, With Mental Retardation
OMIM:311790	6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 1
OMIM:311895	Pierre Robin Sequence With Facial And Digital Anomalies
OMIM:311900	Tarp Syndrome
OMIM:312000	Panhypopituitarism, X-Linked
OMIM:312060	Properdin Deficiency, X-Linked
OMIM:312080	Pelizaeus-Merzbacher Disease
OMIM:312090	Solute Carrier Family 10 (Sodium/Bile Acid Cotransporter Family) Member 3
OMIM:312100	Pseudohermaphroditism, Incomplete Male, Type I
OMIM:312150	Multiple Pterygium Syndrome, X-Linked
OMIM:312170	Pyruvate Dehydrogenase E1-Alpha Deficiency
OMIM:312190	Radial Aplasia, X-Linked
OMIM:312200	Radial Loop, Plain, On Right Index Finger
OMIM:312210	Radiation Sensitivity Of Natural Killer Activity
OMIM:312300	Androgen Insensitivity, Partial
OMIM:312420	Renin-Binding Protein
OMIM:312500	Reticuloendotheliosis, X-Linked
OMIM:312530	Retinal Detachment
OMIM:312550	Retinal Dysplasia, Primary
OMIM:312600	Retinitis Pigmentosa 2
OMIM:312612	Retinitis Pigmentosa 6
OMIM:312700	Retinoschisis 1, X-Linked, Juvenile
OMIM:312750	Rett Syndrome
OMIM:312760	Ribosomal Protein S4, X-Linked
OMIM:312780	Russell-Silver Syndrome, X-Linked
OMIM:312830	Scarf Syndrome
OMIM:312840	Schimke X-Linked Mental Retardation Syndrome
OMIM:312860	Moved To 272440
OMIM:312863	Combined Immunodeficiency, X-Linked
OMIM:312870	Simpson-Golabi-Behmel Syndrome, Type 1
OMIM:312910	Spastic Paraparesis And Deafness
OMIM:312920	Spastic Paraplegia 2, X-Linked
OMIM:313000	Spatial Visualization, Aptitude For
OMIM:313200	Spinal And Bulbar Muscular Atrophy, X-Linked 1
OMIM:313350	Split-Hand/Foot Malformation 2
OMIM:313400	Spondyloepiphyseal Dysplasia Tarda, X-Linked
OMIM:313420	Spondylometaphyseal Dysplasia, X-Linked
OMIM:313490	Taurodontism, Microdontia, And Dens Invaginatus
OMIM:313500	Tooth Agenesis, Selective, X-Linked, 1
OMIM:313850	Thoracoabdominal Syndrome
OMIM:313900	Thrombocytopenia 1
OMIM:314000	Thrombocytopenia With Elevated Serum Iga And Renal Disease
OMIM:314050	Thrombocytopenia With Beta-Thalassemia, X-Linked
OMIM:314100	Thumbs, Congenital Clasped
OMIM:314200	Thyroxine-Binding Globulin Of Serum
OMIM:314240	Tooth Size
OMIM:314250	Dystonia 3, Torsion, X-Linked
OMIM:314300	Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
OMIM:314320	Trigonocephaly With Short Stature And Developmental Delay
OMIM:314360	Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
OMIM:314380	Unique Green Phenomenon
OMIM:314390	Vacterl Association, X-Linked, With Or Without Hydrocephalus
OMIM:314400	Cardiac Valvular Dysplasia, X-Linked
OMIM:314500	Van Den Bosch Syndrome
OMIM:314550	Vesicoureteral Reflux, X-Linked
OMIM:314560	Von Willebrand Disease, X-Linked Form
OMIM:314570	Widow'S Peak Syndrome
OMIM:314580	Wieacker-Wolff Syndrome
OMIM:314600	Wildervanck Syndrome
OMIM:314900	Xm System
OMIM:314980	Zinc Finger Protein, X-Linked
OMIM:315000	Moved To 302200
OMIM:400003	Deleted In Azoospermia
OMIM:400043	Deafness, Y-Linked 1
OMIM:400044	46,Xy Sex Reversal 1
OMIM:400045	46,Xx Sex Reversal 1
OMIM:410000	Amelogenin, Y-Chromosomal
OMIM:415000	Spermatogenic Failure, Y-Linked, 2
OMIM:424500	Gonadoblastoma
OMIM:425000	Granulocyte-Macrophage Colony-Stimulating Factor Receptor, Alpha Subunit, Y-Chromosomal
OMIM:425500	Hairy Ears, Y-Linked
OMIM:426000	Lysine-Specific Demethylase 5d
OMIM:430000	Interleukin 3 Receptor, Y-Chromosomal
OMIM:470000	Ribosomal Protein S4, Y-Linked, 1
OMIM:475000	Growth Control, Y-Chromosome Influenced
OMIM:489500	Xg Regulator
OMIM:490000	Zinc Finger Protein, Y-Linked
OMIM:500001	Leber Optic Atrophy And Dystonia
OMIM:500002	Mitochondrial Myopathy With Diabetes
OMIM:500003	Striatonigral Degeneration, Infantile, Mitochondrial
OMIM:500007	Cyclic Vomiting Syndrome
OMIM:500009	Mitochondrial Myopathy, Infantile, Transient
OMIM:502500	Alzheimer Disease, Susceptibility To, Mitochondrial
OMIM:515000	Chloramphenicol Toxicity
OMIM:516000	Complex I, Subunit Nd1
OMIM:516001	Complex I, Subunit Nd2
OMIM:516005	Complex I, Subunit Nd5
OMIM:516006	Complex I, Subunit Nd6
OMIM:516020	Cytochrome B Of Complex Iii
OMIM:516030	Complex Iv, Cytochrome C Oxidase Subunit I
OMIM:516050	Cytochrome C Oxidase Iii
OMIM:520000	Diabetes And Deafness, Maternally Inherited
OMIM:530000	Kearns-Sayre Syndrome
OMIM:535000	Leber Optic Atrophy
OMIM:540000	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
OMIM:545000	Myoclonic Epilepsy Associated With Ragged-Red Fibers
OMIM:550500	Myoglobinuria, Recurrent
OMIM:551000	Mitochondrial Myopathy, Lethal, Infantile
OMIM:551500	Neuropathy, Ataxia, And Retinitis Pigmentosa
OMIM:553000	Oncocytoma
OMIM:557000	Pearson Marrow-Pancreas Syndrome
OMIM:560000	Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
OMIM:580000	Deafness, Aminoglycoside-Induced
OMIM:598500	Wolfram Syndrome, Mitochondrial Form
OMIM:600000	Spondylocamptodactyly
OMIM:600001	Pancreatic Agenesis And Congenital Heart Defects
OMIM:600002	Eiken Skeletal Dysplasia
OMIM:600045	Dna Damage-Binding Protein 1
OMIM:600057	Exstrophy Of Bladder
OMIM:600059	Retinitis Pigmentosa 13
OMIM:600060	Deafness, Autosomal Recessive 2
OMIM:600072	Fatal Familial Insomnia
OMIM:600080	Myelocytic Leukemia-Like Syndrome, Familial, Chronic
OMIM:600081	Vitamin D Hydroxylation-Deficient Rickets, Type 1b
OMIM:600082	Prostatic Hyperplasia, Benign
OMIM:600084	Macrocytosis, Familial
OMIM:600089	Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
OMIM:600092	Chondrodysplasia-Pseudohermaphroditism Syndrome
OMIM:600093	Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
OMIM:600095	Moved To 246560
OMIM:600096	Puerto Rican Infant Hypotonia Syndrome
OMIM:600101	Deafness, Autosomal Dominant 2a
OMIM:600105	Retinitis Pigmentosa 12
OMIM:600110	Stargardt Disease 3
OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile
OMIM:600117	Dysphasia, Familial Developmental
OMIM:600118	Warburg Micro Syndrome 1
OMIM:600121	Rhizomelic Chondrodysplasia Punctata, Type 3
OMIM:600122	Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
OMIM:600123	Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
OMIM:600131	Epilepsy, Childhood Absence, Susceptibility To, 1
OMIM:600132	Retinitis Pigmentosa 14
OMIM:600138	Retinitis Pigmentosa 11
OMIM:600142	Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
OMIM:600143	Ceroid Lipofuscinosis, Neuronal, 8
OMIM:600145	Sacral Defect With Anterior Meningocele
OMIM:600146	Spastic Paraplegia 5b, Autosomal Recessive
OMIM:600155	Hirschsprung Disease, Susceptibility To, 2
OMIM:600156	Hirschsprung Disease, Susceptibility To, 5
OMIM:600159	Pterygium Colli And Mental Retardation With Facial And Digital Anomalies
OMIM:600165	Nanophthalmos 1
OMIM:600166	Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
OMIM:600171	Gonadal Agenesis
OMIM:600175	Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
OMIM:600176	Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
OMIM:600193	Waardenburg Syndrome, Type 2b
OMIM:600195	Venous Malformations, Multiple Cutaneous And Mucosal
OMIM:600202	Dyslexia, Susceptibility To, 2
OMIM:600204	Epiphyseal Dysplasia, Multiple, 2
OMIM:600208	Macrothrombocytopenia And Progressive Sensorineural Deafness
OMIM:600209	Exostoses, Multiple, Type Iii
OMIM:600223	Spinocerebellar Ataxia 4
OMIM:600224	Spinocerebellar Ataxia 5
OMIM:600231	Palmoplantar Keratoderma, Bothnian Type
OMIM:600251	Facial Clefting, Oblique, 1
OMIM:600252	Lowry-Maclean Syndrome
OMIM:600256	Moved To 123155
OMIM:600257	Chromosome 8q12.1-Q21.2 Deletion Syndrome
OMIM:600263	Helicobacter Pylori Infection, Susceptibility To
OMIM:600268	Oculoectodermal Syndrome
OMIM:600269	Short Tarsus With Absence Of Lower Eyelashes
OMIM:600273	Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
OMIM:600274	Frontotemporal Dementia
OMIM:600302	Fryns Macrocephaly
OMIM:600309	Atrioventricular Septal Defect 3
OMIM:600316	Deafness, Autosomal Recessive 3
OMIM:600325	Aminopterin Syndrome Sine Aminopterin
OMIM:600329	Osteopetrosis And Infantile Neuroaxonal Dystrophy
OMIM:600331	Parc Syndrome
OMIM:600332	Rippling Muscle Disease 1
OMIM:600333	Motor Neuron Disease With Dementia And Ophthalmoplegia
OMIM:600334	Tibial Muscular Dystrophy, Tardive
OMIM:600335	Succinic Acidemia
OMIM:600343	Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
OMIM:600348	Band Heterotopia Of Brain
OMIM:600351	Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
OMIM:600356	Pachydermodactyly, Familial
OMIM:600360	Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
OMIM:600361	Hereditary Motor And Sensory Neuropathy V
OMIM:600363	Spastic Paraplegia 6, Autosomal Dominant
OMIM:600373	Codas Syndrome
OMIM:600376	Telangiectasia, Hereditary Hemorrhagic, Type 2
OMIM:600383	Mesomelia-Synostoses Syndrome
OMIM:600384	Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
OMIM:600399	Pectus Excavatum, Macrocephaly, Short Stature, And Dysplastic Nails
OMIM:600416	Muscular Dystrophy, Scapulohumeral
OMIM:600419	Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
OMIM:600430	Brachydactyly-Mental Retardation Syndrome
OMIM:600457	Hypertrichosis, Anterior Cervical
OMIM:600458	Adenomyosis
OMIM:600459	Arterial Dissection With Lentiginosis
OMIM:600460	Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
OMIM:600461	Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
OMIM:600462	Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
OMIM:600467	Malignant Hyperthermia, Susceptibility To, 4
OMIM:600496	Maturity-Onset Diabetes Of The Young, Type 3
OMIM:600501	Abcd Syndrome
OMIM:600510	Glaucoma-Related Pigment Dispersion Syndrome
OMIM:600511	Schizophrenia 3
OMIM:600512	Epilepsy, Familial Temporal Lobe, 1
OMIM:600513	Epilepsy, Nocturnal Frontal Lobe, 1
OMIM:600541	Ets Variant Gene 1
OMIM:600546	Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
OMIM:600559	Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
OMIM:600561	Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
OMIM:600593	Craniosynostosis, Adelaide Type
OMIM:600598	Setting-Sun Phenomenon, Familial Benign
OMIM:600624	Cone-Rod Dystrophy 1
OMIM:600625	Orofacial Cleft 11
OMIM:600627	Hypertryptophanemia, Familial
OMIM:600628	Loose Anagen Hair Syndrome
OMIM:600630	Uv-Sensitive Syndrome 1
OMIM:600631	Enuresis, Nocturnal, 1
OMIM:600634	Pituitary Adenoma, Prolactin-Secreting
OMIM:600635	Nk2 Homeobox 1
OMIM:600638	Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement
OMIM:600643	Caroli Disease, Isolated
OMIM:600649	Carnitine Palmitoyltransferase Ii Deficiency, Infantile
OMIM:600652	Deafness, Autosomal Dominant 4a
OMIM:600666	Polycystic Kidney Disease 3, Autosomal Dominant
OMIM:600668	Chondrocalcinosis 1
OMIM:600669	Epilepsy, Idiopathic Generalized
OMIM:600670	Varicella, Severe Recurrent
OMIM:600674	Microtia-Anotia
OMIM:600679	Dermoid Cysts, Familial Frontonasal
OMIM:600705	Satoyoshi Syndrome
OMIM:600706	Proximal Myopathy With Focal Depletion Of Mitochondria
OMIM:600721	D-2-Hydroxyglutaric Aciduria 1
OMIM:600736	Velofacioskeletal Syndrome
OMIM:600737	Inclusion Body Myopathy 2, Autosomal Recessive
OMIM:600740	Hypocalciuric Hypercalcemia, Familial, Type Iii
OMIM:600757	Orofacial Cleft 3
OMIM:600771	Dwarfism, Familial, With Muscle Spasms
OMIM:600775	Craniosynostosis 4
OMIM:600776	Fryns Microphthalmia Syndrome
OMIM:600785	Vitamin D-Dependent Rickets, Type 2b, With Normal Vitamin D Receptor
OMIM:600790	Chorioretinal Atrophy, Progressive Bifocal
OMIM:600791	Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
OMIM:600792	Deafness, Autosomal Recessive 5
OMIM:600794	Neuronopathy, Distal Hereditary Motor, Type Va
OMIM:600795	Frontotemporal Dementia, Chromosome 3-Linked
OMIM:600802	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
OMIM:600803	Gallbladder Disease 1
OMIM:600807	Asthma, Susceptibility To
OMIM:600808	Enuresis, Nocturnal, 2
OMIM:600850	Schizophrenia 4
OMIM:600852	Retinitis Pigmentosa 17
OMIM:600858	Cardiomyopathy, Familial Hypertrophic, 6
OMIM:600880	Budd-Chiari Syndrome
OMIM:600881	Cataract 10, Multiple Types
OMIM:600882	Charcot-Marie-Tooth Disease, Axonal, Type 2b
OMIM:600884	Cardiomyopathy, Dilated, 1b
OMIM:600886	Hyperferritinemia With Or Without Cataract
OMIM:600901	Fanconi Anemia, Complementation Group E
OMIM:600903	Wiskott-Aldrich Syndrome, Autosomal Dominant Form
OMIM:600906	Ectodermal Dysplasia With Mental Retardation And Syndactyly
OMIM:600907	Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
OMIM:600908	Agonadism, 46,Xy, With Mental Retardation, Short Stature, Retarded Bone Age, And Multiple Extragenital Malformations
OMIM:600919	Cardiac Arrhythmia, Ankyrin-B-Related
OMIM:600920	Van Den Ende-Gupta Syndrome
OMIM:600952	Transsexuality
OMIM:600955	Proprotein Convertase 1/3 Deficiency
OMIM:600962	Palmoplantar Keratoderma, Nonepidermolytic
OMIM:600965	Deafness, Autosomal Dominant 6
OMIM:600969	Epiphyseal Dysplasia, Multiple, 3
OMIM:600971	Deafness, Autosomal Recessive 6
OMIM:600972	Achondrogenesis, Type Ib
OMIM:600974	Deafness, Autosomal Recessive 7
OMIM:600975	Glaucoma 3, Primary Infantile, B
OMIM:600977	Cone-Rod Dystrophy 5
OMIM:600987	Cardiac Malformation, Cleft Lip/Palate, Microcephaly And Digital Anomalies
OMIM:600989	Infundibulopelvic Dysgenesis
OMIM:600991	Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
OMIM:600994	Deafness, Autosomal Dominant 5
OMIM:600995	Nephrotic Syndrome, Type 2
OMIM:600996	Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
OMIM:601001	Epidermolysis Bullosa Simplex, Autosomal Recessive 1
OMIM:601003	Brody Myopathy
OMIM:601004	Portal Vein, Cavernous Transformation Of
OMIM:601005	Timothy Syndrome
OMIM:601016	Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
OMIM:601027	Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
OMIM:601039	Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin
OMIM:601042	Dystonia 9
OMIM:601067	Usher Syndrome, Type Id
OMIM:601068	Epilepsy, Familial Adult Myoclonic, 1
OMIM:601071	Deafness, Autosomal Recessive 9
OMIM:601072	Deafness, Autosomal Recessive 8
OMIM:601075	Aplasia Cutis Congenita, High Myopia, And Cone-Rod Dysfunction
OMIM:601076	Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
OMIM:601085	Moved To 245570
OMIM:601086	Laterality Defects, Autosomal Dominant
OMIM:601088	Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
OMIM:601095	Harrod Syndrome
OMIM:601096	Spondyloepimetaphyseal Dysplasia, Micromelic
OMIM:601098	Charcot-Marie-Tooth Disease, Demyelinating, Type 1c
OMIM:601104	Supranuclear Palsy, Progressive, 1
OMIM:601110	Congenital Disorder Of Glycosylation, Type Id
OMIM:601127	Fallot Complex With Severe Mental And Growth Retardation
OMIM:601144	Brugada Syndrome 1
OMIM:601152	Hereditary Motor And Sensory Neuropathy Vi
OMIM:601154	Cardiomyopathy, Dilated, 1e
OMIM:601160	Lissencephaly Type Iii And Bone Dysplasia
OMIM:601161	Trisomy 18-Like Syndrome
OMIM:601162	Spastic Paraplegia 9, Autosomal Dominant
OMIM:601163	Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
OMIM:601165	Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
OMIM:601170	Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
OMIM:601186	Microphthalmia, Syndromic 9
OMIM:601187	Gurrieri Syndrome
OMIM:601195	Iron Overload In Africa
OMIM:601198	Hypocalcemia, Autosomal Dominant 1
OMIM:601200	Pleuropulmonary Blastoma
OMIM:601202	Cataract 24
OMIM:601214	Naxos Disease
OMIM:601216	Platyspondyly With Amelogenesis Imperfecta
OMIM:601217	Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
OMIM:601220	Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
OMIM:601222	Moved To 185900
OMIM:601223	Neuronal Intestinal Dysplasia, Type B
OMIM:601224	Potocki-Shaffer Syndrome
OMIM:601228	Polyposis Syndrome, Hereditary Mixed, 1
OMIM:601230	Dermatitis Herpetiformis, Familial
OMIM:601238	Cerebellar Ataxia, Cayman Type
OMIM:601251	Moved To 601777
OMIM:601277	Ichthyosis, Congenital, Autosomal Recessive 4a
OMIM:601286	Moved To 115700
OMIM:601287	Muscular Dystrophy, Limb-Girdle, Type 2f
OMIM:601316	Deafness, Autosomal Dominant 10
OMIM:601317	Deafness, Autosomal Dominant 11
OMIM:601319	Odontomicronychial Dysplasia
OMIM:601321	Neurofibromatosis-Noonan Syndrome
OMIM:601322	Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
OMIM:601331	Renal Dysplasia, Cystic, Susceptibility To
OMIM:601338	Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
OMIM:601341	Atrophia Maculosa Varioliformis Cutis, Familial
OMIM:601344	Spinal Dysplasia, Anhalt Type
OMIM:601345	Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
OMIM:601346	Martinez-Frias Syndrome
OMIM:601347	Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
OMIM:601348	Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
OMIM:601349	Microphthalmia, Syndromic 8
OMIM:601350	Short Stature Syndrome, Brussels Type
OMIM:601351	Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, And Lacrimal Duct Obstruction
OMIM:601352	Mental Retardation, Microcephaly, Epilepsy, And Coarse Face
OMIM:601353	Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
OMIM:601355	Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
OMIM:601356	Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
OMIM:601357	Brachial Amelia, Cleft Lip, And Holoprosencephaly
OMIM:601358	Nicolaides-Baraitser Syndrome
OMIM:601359	Moved To 163200
OMIM:601360	Amelia, Autosomal Recessive
OMIM:601362	Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
OMIM:601363	Wilms Tumor 4
OMIM:601367	Stroke, Ischemic
OMIM:601369	Deafness, Autosomal Dominant 9
OMIM:601370	Holoprosencephaly, Semilobar, With Craniosynostosis
OMIM:601371	Cataract, Age-Related Nuclear
OMIM:601372	Chorea, Remitting, With Nystagmus And Cataract
OMIM:601374	Aprosencephaly And Cerebellar Dysgenesis
OMIM:601375	Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
OMIM:601376	Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
OMIM:601378	Moved To 272430
OMIM:601379	Hunter-Mcalpine Craniosynostosis Syndrome
OMIM:601382	Charcot-Marie-Tooth Disease, Type 4b1
OMIM:601386	Deafness, Autosomal Recessive 12
OMIM:601389	Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
OMIM:601390	Van Maldergem Syndrome 1
OMIM:601399	Platelet Disorder, Familial, With Associated Myeloid Malignancy
OMIM:601410	Diabetes Mellitus, Transient Neonatal, 1
OMIM:601412	Deafness, Autosomal Dominant 7
OMIM:601414	Retinitis Pigmentosa 18
OMIM:601419	Myopathy, Myofibrillar, 1
OMIM:601420	Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
OMIM:601427	Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
OMIM:601438	Rhizomelic Dysplasia, Patterson-Lowry Type
OMIM:601449	Deafness, Progressive, With Stapes Fixation
OMIM:601450	Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
OMIM:601451	Moved To 225400
OMIM:601453	Trichodental Dysplasia
OMIM:601455	Charcot-Marie-Tooth Disease, Type 4d
OMIM:601457	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
OMIM:601462	Myasthenic Syndrome, Congenital, Slow-Channel
OMIM:601466	Patent Ductus Venosus
OMIM:601471	Facial Paresis, Hereditary Congenital, 1
OMIM:601472	Charcot-Marie-Tooth Disease, Axonal, Type 2d
OMIM:601477	Ribbing Disease
OMIM:601492	Mucopolysaccharidosis, Type Ix
OMIM:601493	Cardiomyopathy, Dilated, 1c
OMIM:601494	Cardiomyopathy, Dilated, 1d
OMIM:601495	Agammaglobulinemia 1, Autosomal Recessive
OMIM:601499	Axenfeld-Rieger Syndrome, Type 2
OMIM:601518	Prostate Cancer, Hereditary, 1
OMIM:601536	Athabaskan Brainstem Dysgenesis Syndrome
OMIM:601539	Peroxisome Biogenesis Disorder 1b
OMIM:601543	Deafness, Autosomal Dominant 12
OMIM:601544	Deafness, Autosomal Dominant 3a
OMIM:601547	Cataract 3, Multiple Types
OMIM:601549	Alacrima, Congenital
OMIM:601552	Ectopia Lentis, Spontaneous Filtering Blebs, And Craniofacial Dysmorphism
OMIM:601553	Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
OMIM:601559	Stuve-Wiedemann Syndrome
OMIM:601560	Multiple Epiphyseal Dysplasia With Robin Phenotype
OMIM:601561	Dyssegmental Dysplasia With Glaucoma
OMIM:601583	Wilms Tumor 5
OMIM:601596	Charcot-Marie-Tooth Disease, Type 4c
OMIM:601606	Trichoepithelioma, Multiple Familial, 1
OMIM:601608	Spastic Paraplegia And Evans Syndrome
OMIM:601612	Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
OMIM:601616	Iris Pigment Epithelium Anomalies
OMIM:601626	Leukemia, Acute Myeloid
OMIM:601631	Iridogoniodysgenesis, Type 1
OMIM:601634	Neural Tube Defects, Folate-Sensitive
OMIM:601650	Paragangliomas 2
OMIM:601665	Obesity
OMIM:601666	Diabetes Mellitus, Insulin-Dependent, 15
OMIM:601668	Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
OMIM:601675	Trichothiodystrophy, Photosensitive
OMIM:601678	Bartter Syndrome, Antenatal, Type 1
OMIM:601680	Arthrogryposis, Distal, Type 2b
OMIM:601682	Glaucoma 1, Primary Open Angle, C
OMIM:601696	Novelty Seeking Personality Trait
OMIM:601700	Sebaceous Gland Hyperplasia, Familial Presenile
OMIM:601701	Arthrogryposis And Ectodermal Dysplasia
OMIM:601705	T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
OMIM:601706	Yemenite Deaf-Blind Hypopigmentation Syndrome
OMIM:601707	Craniofacial Malformations, Asymmetric, With Polysyndactyly And Abnormal Skin And Gut Development
OMIM:601708	Superior Transverse Scapular Ligament, Calcification Of, Familial
OMIM:601709	Quebec Platelet Disorder
OMIM:601718	Retinitis Pigmentosa 19
OMIM:601759	Preaxial Hallucal Polydactyly
OMIM:601764	Seizures, Benign Familial Infantile, 1
OMIM:601776	Ehlers-Danlos Syndrome, Musculocontractural Type 1
OMIM:601777	Cone-Rod Dystrophy 6
OMIM:601780	Ceroid Lipofuscinosis, Neuronal, 6
OMIM:601794	Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
OMIM:601803	Pallister-Killian Syndrome
OMIM:601808	Chromosome 18q Deletion Syndrome
OMIM:601809	Spondylospinal Thoracic Dysostosis
OMIM:601811	Premature Aging Syndrome, Okamoto Type
OMIM:601812	Premature Aging Syndrome, Penttinen Type
OMIM:601813	Exudative Vitreoretinopathy 4
OMIM:601815	Phosphoglycerate Dehydrogenase Deficiency
OMIM:601816	Bilirubin, Serum Level Of, Quantitative Trait Locus 1
OMIM:601820	Hyperinsulinemic Hypoglycemia, Familial, 2
OMIM:601829	Acrofacial Dysostosis, Palagonia Type
OMIM:601846	Vacuolar Neuromyopathy
OMIM:601847	Cholestasis, Progressive Familial Intrahepatic, 2
OMIM:601853	Cerebellotrigeminal Dermal Dysplasia
OMIM:601859	Autoimmune Lymphoproliferative Syndrome
OMIM:601868	Deafness, Autosomal Dominant 13
OMIM:601869	Deafness, Autosomal Recessive 15
OMIM:601884	Bone Mineral Density Quantitative Trait Locus 1
OMIM:601885	Cataract 14, Multiple Types
OMIM:601894	Glomerulopathy With Fibronectin Deposits 2
OMIM:601927	Lymphedema, Cardiac Septal Defects, And Characteristic Facies
OMIM:601941	Diabetes Mellitus, Insulin-Dependent, 6
OMIM:601942	Diabetes Mellitus, Insulin-Dependent, 10
OMIM:601952	Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
OMIM:601954	Muscular Dystrophy, Limb-Girdle, Type 2g
OMIM:601957	Odontotrichoungual-Digital-Palmar Syndrome
OMIM:601976	Otofacioosseous-Gonadal Syndrome
OMIM:601977	Thrombocythemia 2
OMIM:601979	Hyperzincemia With Functional Zinc Depletion
OMIM:601992	Friedreich Ataxia 2
OMIM:602014	Hypomagnesemia 1, Intestinal
OMIM:602025	Body Mass Index Quantitative Trait Locus 9
OMIM:602032	Ectodermal Dysplasia 4, Hair/Nail Type
OMIM:602036	Moved To 133200
OMIM:602066	Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
OMIM:602068	Leishmaniasis, Tegumentary, Susceptibility To
OMIM:602071	Broad Terminal Phalanges, Familial
OMIM:602078	Fibrosis Of Extraocular Muscles, Congenital, 2
OMIM:602079	Trimethylaminuria
OMIM:602080	Paget Disease Of Bone
OMIM:602081	Speech-Language Disorder 1
OMIM:602082	Corneal Dystrophy Of Bowman Layer, Type Ii
OMIM:602083	Usher Syndrome, Type If
OMIM:602084	Moved To 601728
OMIM:602085	Polydactyly, Postaxial, Type A2
OMIM:602086	Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
OMIM:602087	Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
OMIM:602088	Nephronophthisis 2
OMIM:602089	Hemangioma, Capillary Infantile
OMIM:602092	Deafness, Autosomal Recessive 18a
OMIM:602093	Cone Dystrophy 3
OMIM:602096	Alzheimer Disease 5
OMIM:602097	Usher Syndrome, Type Ie
OMIM:602099	Amyotrophic Lateral Sclerosis 5
OMIM:602107	Neuropathy, Hereditary Thermosensitive
OMIM:602111	Spondyloepimetaphyseal Dysplasia, Missouri Type
OMIM:602114	Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
OMIM:602124	Dystonia 7, Torsion
OMIM:602134	Tremor, Hereditary Essential, 2
OMIM:602152	Rhyns Syndrome
OMIM:602196	Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
OMIM:602197	Cerebellar Degeneration-Related Autoantigen 3
OMIM:602199	Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
OMIM:602200	Ventriculomegaly With Defects Of The Radius And Kidney
OMIM:602247	Xanthomatosis, Susceptibility To
OMIM:602248	Malignant Atrophic Papulosis
OMIM:602249	Progeroid Facial Appearance With Hand Anomalies
OMIM:602271	Spondylometaphyseal Dysplasia, Axial
OMIM:602342	Plantar Lipomatosis, Unusual Facies, And Developmental Delay
OMIM:602347	Cholestasis, Progressive Familial Intrahepatic, 3
OMIM:602361	Gracile Bone Dysplasia
OMIM:602390	Hemochromatosis, Type 2a
OMIM:602398	Desmosterolosis
OMIM:602400	Ichthyosis, Congenital, Autosomal Recessive 11
OMIM:602401	Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
OMIM:602418	Weyers Ulnar Ray/Oligodactyly Syndrome
OMIM:602433	Amyotrophic Lateral Sclerosis 4, Juvenile
OMIM:602440	Amyotrophy, Monomelic
OMIM:602450	Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
OMIM:602459	Deafness, Autosomal Dominant 15
OMIM:602471	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
OMIM:602473	Encephalopathy, Ethylmalonic
OMIM:602475	Ossification Of The Posterior Longitudinal Ligament Of Spine
OMIM:602477	Febrile Seizures, Familial, 2
OMIM:602481	Migraine, Familial Hemiplegic, 2
OMIM:602482	Axenfeld-Rieger Syndrome, Type 3
OMIM:602483	Auriculocondylar Syndrome 1
OMIM:602484	Pelvic Hypoplasia With Lower-Limb Arthrogryposis
OMIM:602485	Hyperinsulinemic Hypoglycemia, Familial, 3
OMIM:602501	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
OMIM:602522	Bartter Syndrome, Type 4a
OMIM:602531	Arterial Occlusive Disease, Progressive, With Hypertension, Heart Defects, Bone Fragility, And Brachysyndactyly
OMIM:602535	Marshall-Smith Syndrome
OMIM:602540	Ichthyosis, Hystrix-Like, With Deafness
OMIM:602541	Muscular Dystrophy, Congenital, Megaconial Type
OMIM:602553	Anal Atresia, Hypospadias, And Penoscrotal Inversion
OMIM:602554	Torsion Dystonia With Onset In Infancy
OMIM:602557	Spondyloepimetaphyseal Dysplasia, Shohat Type
OMIM:602558	Craniomicromelic Syndrome
OMIM:602562	Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
OMIM:602579	Congenital Disorder Of Glycosylation, Type Ib
OMIM:602588	Branchiootic Syndrome 1
OMIM:602612	Camptodactyly, Myopia, And Fibrosis Of The Medial Rectus Muscle Of Eye
OMIM:602613	Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
OMIM:602629	Dystonia 6, Torsion
OMIM:602668	Myotonic Dystrophy 2
OMIM:602722	Renal Tubular Acidosis, Distal, Autosomal Recessive
OMIM:602771	Rigid Spine Muscular Dystrophy 1
OMIM:602772	Retinitis Pigmentosa 25
OMIM:602782	Histiocytosis-Lymphadenopathy Plus Syndrome
OMIM:602849	Muenke Syndrome
OMIM:602875	Acromesomelic Dysplasia, Maroteaux Type
OMIM:603034	Endplate Acetylcholinesterase Deficiency
OMIM:603041	Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
OMIM:603116	Cdags Syndrome
OMIM:603147	Congenital Disorder Of Glycosylation, Type Ic
OMIM:603165	Dermatitis, Atopic
OMIM:603194	Meckel Syndrome, Type 2
OMIM:603204	Epilepsy, Nocturnal Frontal Lobe, 2
OMIM:603218	Huntington Disease-Like 1
OMIM:603221	Myopia 3, Autosomal Dominant
OMIM:603233	Pseudohypoparathyroidism, Type Ib
OMIM:603278	Focal Segmental Glomerulosclerosis 1
OMIM:603284	Cerebral Cavernous Malformations 2
OMIM:603285	Cerebral Cavernous Malformations 3
OMIM:603358	Gracile Syndrome
OMIM:603373	Hyperthyroidism, Familial Gestational
OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
OMIM:603438	Radioulnar Synostosis With Microcephaly, Short Stature, Scoliosis, And Mental Retardation
OMIM:603457	Arhinia, Choanal Atresia, And Microphthalmia
OMIM:603463	Hypospadias, Hypertelorism, Upper Lid Coloboma, And Mixed-Type Hearing Loss
OMIM:603467	Fanconi Anemia, Complementation Group F
OMIM:603471	Citrullinemia, Type Ii, Adult-Onset
OMIM:603472	Neuronal Intranuclear Inclusion Disease
OMIM:603511	Muscular Dystrophy, Limb-Girdle, Type 1e
OMIM:603513	Cerebral Palsy, Spastic Quadriplegic, 1
OMIM:603516	Spinocerebellar Ataxia 10
OMIM:603529	Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
OMIM:603543	Limb-Mammary Syndrome
OMIM:603546	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
OMIM:603552	Hemophagocytic Lymphohistiocytosis, Familial, 4
OMIM:603553	Hemophagocytic Lymphohistiocytosis, Familial, 2
OMIM:603554	Omenn Syndrome
OMIM:603563	Spastic Paraplegia 8, Autosomal Dominant
OMIM:603585	Congenital Disorder Of Glycosylation, Type Iif
OMIM:603622	Deafness, Autosomal Dominant 17
OMIM:603629	Deafness, Autosomal Recessive 21
OMIM:603641	Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
OMIM:603649	Cone-Rod Dystrophy 7
OMIM:603671	Acromelic Frontonasal Dysostosis
OMIM:603688	Prostate Cancer/Brain Cancer Susceptibility
OMIM:603689	Hereditary Myopathy With Early Respiratory Failure
OMIM:603720	Deafness, Autosomal Recessive 16
OMIM:603736	Ohdo Syndrome, Sbbys Variant
OMIM:603776	Hypercholesterolemia, Autosomal Dominant, 3
OMIM:603786	Stargardt Disease 4
OMIM:603813	Hypercholesterolemia, Autosomal Recessive
OMIM:603829	Ventricular Fibrillation During Myocardial Infarction, Susceptibility To
OMIM:603830	Long Qt Syndrome 3
OMIM:603855	Cystic Fibrosis, Modifier Of, 1
OMIM:603860	Medullary Cystic Kidney Disease 2
OMIM:603896	Leukoencephalopathy With Vanishing White Matter
OMIM:603902	Beta-Thalassemia, Dominant Inclusion Body Type
OMIM:603903	Sickle Cell Anemia
OMIM:603909	Autoimmune Lymphoproliferative Syndrome, Type Iia
OMIM:603956	Cervical Cancer
OMIM:603964	Deafness, Autosomal Dominant 16
OMIM:603965	Focal Segmental Glomerulosclerosis 2
OMIM:604004	Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
OMIM:604060	Deafness, Autosomal Recessive 20
OMIM:604091	Hypoalphalipoproteinemia, Primary
OMIM:604093	Keratosis Pilaris
OMIM:604116	Cone-Rod Dystrophy 3
OMIM:604117	Vohwinkel Syndrome, Variant Form
OMIM:604121	Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
OMIM:604129	Epidermolysis Bullosa Pruriginosa
OMIM:604131	Alpha-Thalassemia
OMIM:604145	Cardiomyopathy, Dilated, 1g
OMIM:604168	Congenital Cataracts, Facial Dysmorphism, And Neuropathy
OMIM:604169	Left Ventricular Noncompaction 1
OMIM:604173	Poikiloderma With Neutropenia
OMIM:604185	Facial Paresis, Hereditary Congenital, 2
OMIM:604187	Spastic Paraplegia 10, Autosomal Dominant
OMIM:604213	Chudley-Mccullough Syndrome
OMIM:604218	Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
OMIM:604219	Cataract 9, Multiple Types
OMIM:604229	Peters Anomaly
OMIM:604232	Leber Congenital Amaurosis 3
OMIM:604233	Generalized Epilepsy With Febrile Seizures Plus, Type 1
OMIM:604250	Hemochromatosis, Type 3
OMIM:604271	Short Stature, Idiopathic, Autosomal
OMIM:604273	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
OMIM:604278	Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
OMIM:604286	Muscular Dystrophy, Limb-Girdle, Type 2e
OMIM:604287	Carney Triad
OMIM:604290	Aceruloplasminemia
OMIM:604292	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
OMIM:604302	Rheumatoid Arthritis, Systemic Juvenile
OMIM:604307	Cataract 2, Multiple Types
OMIM:604308	Mass Syndrome
OMIM:604314	Blepharophimosis With Facial And Genital Anomalies And Mental Retardation
OMIM:604317	Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
OMIM:604320	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
OMIM:604321	Microcephaly 4, Primary, Autosomal Recessive
OMIM:604326	Spinocerebellar Ataxia 12
OMIM:604348	Advanced Sleep Phase Syndrome, Familial, 1
OMIM:604352	Febrile Seizures, Familial, 4
OMIM:604356	Duane Retraction Syndrome 2
OMIM:604360	Spastic Paraplegia 11, Autosomal Recessive
OMIM:604364	Epilepsy, Familial Focal, With Variable Foci
OMIM:604367	Lipodystrophy, Familial Partial, Type 3
OMIM:604369	Salla Disease
OMIM:604370	Breast-Ovarian Cancer, Familial, Susceptibility To, 1
OMIM:604377	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1
OMIM:604379	Hypotrichosis 7
OMIM:604381	Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
OMIM:604387	Nephronophthisis 3
OMIM:604391	Ataxia-Telangiectasia-Like Disorder
OMIM:604393	Leber Congenital Amaurosis 4
OMIM:604400	Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
OMIM:604401	Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
OMIM:604403	Generalized Epilepsy With Febrile Seizures Plus, Type 2
OMIM:604416	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
OMIM:604432	Spinocerebellar Ataxia 11
OMIM:604454	Welander Distal Myopathy
OMIM:604484	Hereditary Motor And Sensory Neuropathy, Proximal Type
OMIM:604498	Amegakaryocytic Thrombocytopenia, Congenital
OMIM:604536	Ectodermal Dysplasia/Skin Fragility Syndrome
OMIM:604537	Leber Congenital Amaurosis 5
OMIM:604559	Progressive Familial Heart Block, Type Ib
OMIM:604563	Charcot-Marie-Tooth Disease, Type 4b2
OMIM:604571	Bare Lymphocyte Syndrome, Type I
OMIM:604625	Tooth Agenesis, Selective, 3
OMIM:604715	Orthostatic Intolerance
OMIM:604717	Deafness, Autosomal Dominant 20
OMIM:604757	Craniosynostosis 2
OMIM:604765	Cardiomyopathy, Dilated, 1i
OMIM:604772	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
OMIM:604777	Ichthyosis, Congenital, Autosomal Recessive 5
OMIM:604801	Muscular Dystrophy, Congenital, 1b
OMIM:604802	Huntington Disease-Like 3
OMIM:604804	Microcephaly 3, Primary, Autosomal Recessive
OMIM:604805	Spastic Paraplegia 12, Autosomal Dominant
OMIM:604809	Panbronchiolitis, Diffuse
OMIM:604827	Epilepsy, Idiopathic Generalized, Susceptibility To, 7
OMIM:604841	Stickler Syndrome, Type Ii
OMIM:604864	Osteoarthritis With Mild Chondrodysplasia
OMIM:604901	North American Indian Childhood Cirrhosis
OMIM:604916	Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation
OMIM:604919	Becker Nevus Syndrome
OMIM:604922	Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
OMIM:604928	Wolfram Syndrome 2
OMIM:604931	Cortisone Reductase Deficiency 1
OMIM:605013	Microhydranencephaly
OMIM:605019	Hypobetalipoproteinemia, Familial, 2
OMIM:605021	Myoclonic Epilepsy, Familial Infantile
OMIM:605027	Lymphoma, Non-Hodgkin, Familial
OMIM:605039	Bohring-Opitz Syndrome
OMIM:605041	Brooke-Spiegler Syndrome
OMIM:605055	Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
OMIM:605074	Renal Cell Carcinoma, Papillary, 1
OMIM:605115	Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
OMIM:605130	Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
OMIM:605192	Deafness, Autosomal Dominant 23
OMIM:605229	Spastic Paraplegia 14, Autosomal Recessive
OMIM:605249	Sebastian Syndrome
OMIM:605253	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
OMIM:605258	Immunodeficiency With Hyper-Igm, Type 2
OMIM:605259	Spinocerebellar Ataxia 13
OMIM:605274	Mesomelic Dysplasia, Savarirayan Type
OMIM:605280	Spastic Paraplegia 13, Autosomal Dominant
OMIM:605282	Temtamy Preaxial Brachydactyly Syndrome
OMIM:605285	Neuropathy, Hereditary Motor And Sensory, Russe Type
OMIM:605289	Split-Hand/Foot Malformation 4
OMIM:605309	Macrocephaly/Autism Syndrome
OMIM:605321	Frontoocular Syndrome
OMIM:605355	Nemaline Myopathy 5
OMIM:605361	Spinocerebellar Ataxia 14
OMIM:605362	Cardiomyopathy, Dilated, 1j
OMIM:605373	Paragangliomas 3
OMIM:605375	Epilepsy, Nocturnal Frontal Lobe, 3
OMIM:605376	Heterotaxy, Visceral, 2, Autosomal
OMIM:605387	Cataract 31, Multiple Types
OMIM:605388	Cerebral Palsy, Ataxic, Autosomal Recessive
OMIM:605389	Hypotrichosis 1
OMIM:605407	Segawa Syndrome, Autosomal Recessive
OMIM:605419	Schizophrenia 10
OMIM:605431	Mitogen-Activated Protein Kinase 8-Interacting Protein 3
OMIM:605432	Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia
OMIM:605462	Basal Cell Carcinoma, Susceptibility To, 1
OMIM:605472	Usher Syndrome, Type Iic
OMIM:605479	Cholestasis, Benign Recurrent Intrahepatic, 2
OMIM:605543	Parkinson Disease 4, Autosomal Dominant
OMIM:605549	Cone-Rod Dystrophy 8
OMIM:605583	Deafness, Autosomal Dominant 25
OMIM:605588	Charcot-Marie-Tooth Disease, Axonal, Type 2b1
OMIM:605589	Charcot-Marie-Tooth Disease, Axonal, Type 2b2
OMIM:605594	Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
OMIM:605627	Cerebrooculonasal Syndrome
OMIM:605637	Inclusion Body Myopathy 3, Autosomal Dominant
OMIM:605670	Late-Onset Retinal Degeneration
OMIM:605676	Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
OMIM:605685	Cutis Verticis Gyrata, Retinitis Pigmentosa, And Sensorineural Deafness
OMIM:605711	Multiple Mitochondrial Dysfunctions Syndrome 1
OMIM:605714	Cerebral Amyloid Angiopathy, App-Related
OMIM:605724	Fanconi Anemia, Complementation Group D1
OMIM:605726	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
OMIM:605735	Bleeding Disorder, Platelet-Type, 12
OMIM:605751	Seizures, Benign Familial Infantile, 2
OMIM:605779	Nail Disorder, Nonsyndromic Congenital, 7
OMIM:605808	Birdshot Chorioretinopathy
OMIM:605809	Myasthenia, Familial Infantile, 1
OMIM:605814	Citrullinemia, Type Ii, Neonatal-Onset
OMIM:605820	Nonaka Myopathy
OMIM:605822	Spondyloocular Syndrome, Autosomal Recessive
OMIM:605827	Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
OMIM:605839	Moved To 150800
OMIM:605850	Dimethylglycine Dehydrogenase Deficiency
OMIM:605899	Glycine Encephalopathy
OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset
OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency
OMIM:605967	Acropectoral Syndrome
OMIM:606002	Spinocerebellar Ataxia, Autosomal Recessive 1
OMIM:606003	Transaldolase Deficiency
OMIM:606053	Autism, Susceptibility To, 5
OMIM:606054	Propionic Acidemia
OMIM:606056	Congenital Disorder Of Glycosylation, Type Iib
OMIM:606068	Retinitis Pigmentosa 28
OMIM:606069	Hemochromatosis, Type 4
OMIM:606070	Myopathy, Distal, 2
OMIM:606071	Hereditary Motor And Sensory Neuropathy, Type Iic
OMIM:606072	Rippling Muscle Disease
OMIM:606155	Fryns-Aftimos Syndrome
OMIM:606156	Sener Syndrome
OMIM:606159	Neurodegeneration With Brain Iron Accumulation 3
OMIM:606170	Genitopatellar Syndrome
OMIM:606176	Diabetes Mellitus, Permanent Neonatal
OMIM:606183	Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
OMIM:606217	Atrioventricular Septal Defect, Susceptibility To, 2
OMIM:606232	Phelan-Mcdermid Syndrome
OMIM:606242	Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
OMIM:606243	Alveolar Soft Part Sarcoma
OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset
OMIM:606346	Deafness, Autosomal Dominant 22
OMIM:606353	Primary Lateral Sclerosis, Juvenile
OMIM:606367	Interleukin 2 Receptor, Alpha, Deficiency Of
OMIM:606369	Macrocephaly And Epileptic Encephalopathy
OMIM:606392	Maturity-Onset Diabetes Of The Young, Type 4
OMIM:606394	Maturity-Onset Diabetes Of The Young, Type 6
OMIM:606407	Hypotonia-Cystinuria Syndrome
OMIM:606408	Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency
OMIM:606438	Huntington Disease-Like 2
OMIM:606445	Persistent Polyclonal B-Cell Lymphocytosis
OMIM:606482	Charcot-Marie-Tooth Disease, Dominant Intermediate B
OMIM:606483	Charcot-Marie-Tooth Disease, Dominant Intermediate A
OMIM:606519	Phace Association
OMIM:606528	Homozygous 11p15-P14 Deletion Syndrome
OMIM:606545	Ichthyosis, Congenital, Autosomal Recessive 3
OMIM:606552	Episodic Ataxia, Type 4
OMIM:606554	Episodic Ataxia, Type 3
OMIM:606574	Albinism, Oculocutaneous, Type Iv
OMIM:606579	Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
OMIM:606593	Lig4 Syndrome
OMIM:606595	Charcot-Marie-Tooth Disease, Axonal, Type 2f
OMIM:606612	Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Mental Retardation), Type B, 5
OMIM:606658	Spinocerebellar Ataxia 15
OMIM:606664	Glycine N-Methyltransferase Deficiency
OMIM:606685	Cardiomyopathy, Dilated, 1l
OMIM:606688	Spongiform Encephalopathy With Neuropsychiatric Features
OMIM:606690	Lymphangioleiomyomatosis
OMIM:606693	Kufor-Rakeb Syndrome
OMIM:606703	Dyskinesia, Familial, With Facial Myokymia
OMIM:606705	Deafness, Autosomal Dominant 36
OMIM:606711	Specific Language Impairment 1
OMIM:606712	Specific Language Impairment 2
OMIM:606713	Van Der Woude Syndrome 2
OMIM:606719	Melanoma-Pancreatic Cancer Syndrome
OMIM:606721	Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome
OMIM:606744	Seckel Syndrome 2
OMIM:606762	Hyperinsulinemic Hypoglycemia, Familial, 6
OMIM:606763	Ciliary Dyskinesia, Primary, 2
OMIM:606764	Gastrointestinal Stromal Tumor
OMIM:606766	Spermatogenic Failure 3
OMIM:606768	Myopathy, Distal, With Anterior Tibial Onset
OMIM:606772	Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
OMIM:606777	Glut1 Deficiency Syndrome 1
OMIM:606785	Crigler-Najjar Syndrome, Type Ii
OMIM:606798	Blepharospasm, Benign Essential
OMIM:606812	Fumarase Deficiency
OMIM:606824	Glucose/Galactose Malabsorption
OMIM:606835	Digital Arthropathy-Brachydactyly, Familial
OMIM:606840	Parasomnia, Sleep Bruxism Type
OMIM:606842	Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
OMIM:606843	Immunodeficiency With Hyper-Igm, Type 3
OMIM:606851	Cree Mental Retardation Syndrome
OMIM:606854	Polymicrogyria, Bilateral Frontoparietal
OMIM:606858	Moved To 251200
OMIM:606864	Paraganglioma And Gastric Stromal Sarcoma
OMIM:606889	Alzheimer Disease 4
OMIM:606895	Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
OMIM:606937	Spinocerebellar Ataxia, Autosomal Recessive 5
OMIM:606943	Usher Syndrome, Type Ig
OMIM:606952	Albinism, Oculocutaneous, Type Ib
OMIM:606960	Insulinoma Tumor Suppressor Gene Locus
OMIM:606963	Pulmonary Disease, Chronic Obstructive
OMIM:606966	Nephronophthisis 4
OMIM:606995	Senior-Loken Syndrome 3
OMIM:606996	Senior-Loken Syndrome 4
OMIM:607004	Brachydactyly, Type A1, B
OMIM:607014	Hurler Syndrome
OMIM:607015	Hurler-Scheie Syndrome
OMIM:607016	Scheie Syndrome
OMIM:607039	Deafness, Autosomal Recessive 22
OMIM:607060	Parkinson Disease 8, Autosomal Dominant
OMIM:607078	Epiphyseal Dysplasia, Multiple, 5
OMIM:607080	46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
OMIM:607084	Deafness, Autosomal Recessive 31
OMIM:607088	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
OMIM:607091	Congenital Disorder Of Glycosylation, Type Iid
OMIM:607095	Anauxetic Dysplasia
OMIM:607101	Deafness, Autosomal Recessive 30
OMIM:607107	Nasopharyngeal Carcinoma
OMIM:607115	Cinca Syndrome
OMIM:607131	Macrocephaly With Multiple Epiphyseal Dysplasia And Distinctive Facies
OMIM:607133	Moved To 601547
OMIM:607136	Spinocerebellar Ataxia 17
OMIM:607143	Congenital Disorder Of Glycosylation, Type Ig
OMIM:607152	Spastic Paraplegia 19, Autosomal Dominant
OMIM:607155	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
OMIM:607161	Multiple Congenital Anomalies Syndrome With Cloverleaf Skull
OMIM:607174	Meningioma, Familial, Susceptibility To
OMIM:607196	Microcephaly, Amish Type
OMIM:607200	Thyroid Dyshormonogenesis 6
OMIM:607208	Dravet Syndrome
OMIM:607214	Anonychia, Total, With Microcephaly
OMIM:607225	Spastic Paralysis, Infantile-Onset Ascending
OMIM:607236	Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
OMIM:607250	Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
OMIM:607259	Spastic Paraplegia 7, Autosomal Recessive
OMIM:607271	Caspase 8 Deficiency
OMIM:607313	Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
OMIM:607317	Spinocerebellar Ataxia, Autosomal Recessive 4
OMIM:607322	Moved To 143470
OMIM:607323	Duane-Radial Ray Syndrome
OMIM:607326	Smith-Mccort Dysplasia 1
OMIM:607330	Lathosterolosis
OMIM:607341	Focal Cortical Dysplasia Of Taylor
OMIM:607346	Spinocerebellar Ataxia 19
OMIM:607361	Meckel Syndrome, Type 3
OMIM:607364	Bartter Syndrome, Type 3
OMIM:607371	Dystonia, Juvenile-Onset
OMIM:607373	Autism, Susceptibility To, 8
OMIM:607398	Glucocorticoid Deficiency 2
OMIM:607411	Patent Ductus Arteriosus
OMIM:607417	Mental Retardation, Autosomal Recessive 2
OMIM:607426	Coenzyme Q10 Deficiency, Primary, 1
OMIM:607432	Lissencephaly 1
OMIM:607450	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
OMIM:607453	Deafness, Autosomal Dominant 44
OMIM:607454	Spinocerebellar Ataxia 21
OMIM:607458	Spinocerebellar Ataxia 18
OMIM:607459	Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
OMIM:607473	Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2
OMIM:607475	Bothnia Retinal Dystrophy
OMIM:607476	Newfoundland Rod-Cone Dystrophy
OMIM:607482	Cardiomyopathy, Dilated, 1m
OMIM:607483	Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
OMIM:607485	Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
OMIM:607487	Cardiomyopathy, Dilated, 1n
OMIM:607488	Dystonia 15, Myoclonic
OMIM:607498	Migraine With Or Without Aura, Susceptibility To, 3
OMIM:607499	Bulimia Nervosa, Susceptibility To, 1
OMIM:607501	Migraine Without Aura, Susceptibility To, 4
OMIM:607508	Migraine With Or Without Aura, Susceptibility To, 5
OMIM:607516	Migraine With Or Without Aura, Susceptibility To, 6
OMIM:607523	Nail Disorder, Nonsyndromic Congenital, 8
OMIM:607541	Corneal Dystrophy, Avellino Type
OMIM:607552	Minicore Myopathy, Antenatal Onset, With Arthrogryposis
OMIM:607554	Atrial Fibrillation, Familial, 3
OMIM:607565	Spastic Paraplegia, Ataxia, And Mental Retardation
OMIM:607569	Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
OMIM:607578	Breath-Holding Spells
OMIM:607584	Spastic Paraplegia 24, Autosomal Recessive
OMIM:607594	Immunodeficiency, Common Variable, 1
OMIM:607595	Brain Small Vessel Disease With Hemorrhage
OMIM:607596	Pontocerebellar Hypoplasia, Type 1a
OMIM:607597	Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
OMIM:607598	Lethal Congenital Contracture Syndrome 2
OMIM:607600	Epidermolysis Bullosa Simplex Superficialis
OMIM:607602	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
OMIM:607616	Niemann-Pick Disease, Type B
OMIM:607624	Griscelli Syndrome, Type 2
OMIM:607625	Niemann-Pick Disease, Type C2
OMIM:607626	Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
OMIM:607628	Epilepsy, Idiopathic Generalized, Susceptibility To, 11
OMIM:607631	Epilepsy, Juvenile Absence, Susceptibility To, 1
OMIM:607634	Osteopetrosis, Autosomal Dominant 1
OMIM:607636	Van Buchem Disease, Type 2
OMIM:607641	Neuronopathy, Distal Hereditary Motor, Type Viib
OMIM:607644	Candidiasis, Familial, 3
OMIM:607654	Keratosis Palmoplantaris Striata Iii
OMIM:607655	Skin Fragility-Woolly Hair Syndrome
OMIM:607665	Tubulointerstitial Nephritis With Uveitis
OMIM:607671	Dystonia 13, Torsion, Autosomal Dominant
OMIM:607674	Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
OMIM:607676	Irak4 Deficiency
OMIM:607677	Charcot-Marie-Tooth Disease, Axonal, Type 2i
OMIM:607678	Charcot-Marie-Tooth Disease, Demyelinating, Type 1d
OMIM:607681	Epilepsy, Childhood Absence, Susceptibility To, 2
OMIM:607682	Epilepsy, Idiopathic Generalized, Susceptibility To, 9
OMIM:607683	Deafness, Autosomal Dominant 52
OMIM:607684	Charcot-Marie-Tooth Disease, Axonal, Type 2e
OMIM:607685	Hypereosinophilic Syndrome, Idiopathic
OMIM:607688	Parkinson Disease 11, Autosomal Dominant
OMIM:607694	Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
OMIM:607706	Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
OMIM:607721	Noonan Syndrome-Like Disorder With Loose Anagen Hair
OMIM:607731	Charcot-Marie-Tooth Disease, Axonal, Type 2h
OMIM:607734	Charcot-Marie-Tooth Disease, Demyelinating, Type 1f
OMIM:607736	Charcot-Marie-Tooth Disease, Axonal, Type 2j
OMIM:607745	Seizures, Benign Familial Infantile, 3
OMIM:607748	Hypercholanemia, Familial
OMIM:607765	Bile Acid Synthesis Defect, Congenital, 1
OMIM:607778	Acrocapitofemoral Dysplasia
OMIM:607785	Juvenile Myelomonocytic Leukemia
OMIM:607791	Charcot-Marie-Tooth Disease, Dominant Intermediate D
OMIM:607801	Muscular Dystrophy, Limb-Girdle, Type 1c
OMIM:607812	Craniolenticulosutural Dysplasia
OMIM:607821	Deafness, Autosomal Recessive 37
OMIM:607822	Alzheimer Disease 3
OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia Syndrome
OMIM:607829	Mitral Valve Prolapse, Myxomatous 2
OMIM:607831	Charcot-Marie-Tooth Disease, Axonal, Type 2k
OMIM:607832	Focal Segmental Glomerulosclerosis 3, Susceptibility To
OMIM:607841	Deafness, Autosomal Dominant 48
OMIM:607842	Aural Atresia, Congenital
OMIM:607847	Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
OMIM:607850	Osteoarthritis Susceptibility 3
OMIM:607855	Muscular Dystrophy, Congenital Merosin-Deficient, 1a
OMIM:607859	Angioma, Tufted
OMIM:607864	Caudal Duplication Anomaly
OMIM:607872	Chromosome 1p36 Deletion Syndrome
OMIM:607876	Epilepsy, Familial Adult Myoclonic, 2
OMIM:607903	Hypotrichosis 6
OMIM:607906	Congenital Disorder Of Glycosylation, Type Ii
OMIM:607907	Dermatofibrosarcoma Protuberans
OMIM:607921	Retinitis Pigmentosa 30
OMIM:607932	Microphthalmia, Syndromic 6
OMIM:607936	Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like
OMIM:607941	Atrial Septal Defect 2
OMIM:607944	Spondyloenchondrodysplasia With Immune Dysregulation
OMIM:608013	Gaucher Disease, Perinatal Lethal
OMIM:608022	Diaphanospondylodysostosis
OMIM:608027	Pontocerebellar Hypoplasia, Type 3
OMIM:608028	Thai Symphalangism Syndrome
OMIM:608029	Spinocerebellar Ataxia, Autosomal Recessive 6
OMIM:608030	Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
OMIM:608033	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
OMIM:608049	Autism, Susceptibility To, 3
OMIM:608051	Macular Dystrophy, Retinal, 2
OMIM:608068	Neutrophilic Dermatosis, Acute Febrile
OMIM:608088	Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
OMIM:608089	Endometrial Cancer
OMIM:608091	Joubert Syndrome 2
OMIM:608093	Congenital Disorder Of Glycosylation, Type Ij
OMIM:608096	Epilepsy, Familial Temporal Lobe, 2
OMIM:608097	Periventricular Heterotopia With Microcephaly, Autosomal Recessive
OMIM:608099	Muscular Dystrophy, Limb-Girdle, Type 2d
OMIM:608104	Congenital Disorder Of Glycosylation, Type Ih
OMIM:608105	Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
OMIM:608106	Immunodeficiency With Hyper-Igm, Type 5
OMIM:608115	Ovarian Hyperstimulation Syndrome
OMIM:608118	Zinc Deficiency, Transient Neonatal
OMIM:608133	Retinitis Pigmentosa 7
OMIM:608154	Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
OMIM:608156	Nablus Mask-Like Facial Syndrome
OMIM:608161	Macular Dystrophy, Vitelliform, Adult-Onset
OMIM:608175	Autoimmune Thyroid Disease, Susceptibility To, 3
OMIM:608180	Synpolydactyly 2
OMIM:608184	Immunodeficiency With Hyper-Igm, Type 4
OMIM:608189	Tropical Calcific Pancreatitis
OMIM:608194	Cone-Rod Dystrophy 13
OMIM:608203	Neutrophil Immunodeficiency Syndrome
OMIM:608217	Seizures, Benign Familial Neonatal, 3
OMIM:608219	Deafness, Autosomal Recessive 38
OMIM:608224	Deafness, Autosomal Dominant 41
OMIM:608227	Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
OMIM:608232	Leukemia, Chronic Myeloid
OMIM:608233	Hermansky-Pudlak Syndrome 2
OMIM:608236	Slowed Nerve Conduction Velocity, Autosomal Dominant
OMIM:608244	Otosclerosis 3
OMIM:608257	Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
OMIM:608264	Deafness, Autosomal Recessive 40
OMIM:608265	Deafness, Autosomal Recessive 39
OMIM:608266	Parathyroid Carcinoma
OMIM:608278	Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
OMIM:608279	Craniosynostosis With Ocular Abnormalities And Hallucal Defects
OMIM:608320	Coronary Artery Disease, Autosomal Dominant, 1
OMIM:608323	Charcot-Marie-Tooth Disease, Dominant Intermediate C
OMIM:608328	Weill-Marchesani Syndrome 2
OMIM:608340	Charcot-Marie-Tooth Disease, Recessive Intermediate A
OMIM:608345	Nystagmus 3, Congenital, Autosomal Dominant
OMIM:608354	Capillary Malformation-Arteriovenous Malformation
OMIM:608355	Parkes Weber Syndrome
OMIM:608358	Myopathy, Myosin Storage
OMIM:608361	Spondyloepiphyseal Dysplasia, Kimberley Type
OMIM:608363	Chromosome 22q11.2 Duplication Syndrome
OMIM:608367	Myopia 17, Autosomal Dominant
OMIM:608372	Deafness, Autosomal Dominant 49
OMIM:608380	Retinitis Pigmentosa 26
OMIM:608389	Branchiootic Syndrome 3
OMIM:608390	Myotonia, Potassium-Aggravated
OMIM:608393	Microcephaly 6, Primary, Autosomal Recessive
OMIM:608404	Platelet Glycoprotein Iv Deficiency
OMIM:608406	Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
OMIM:608415	Prolonged Electroretinal Response Suppression
OMIM:608423	Muscular Dystrophy, Limb-Girdle, Type 1f
OMIM:608432	Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
OMIM:608443	Mental Retardation, Autosomal Recessive 3
OMIM:608454	Moved To 267750
OMIM:608456	Familial Adenomatous Polyposis, 2
OMIM:608470	Corneal Dystrophy Of Bowman Layer, Type I
OMIM:608471	Corneal Dystrophy, Lattice Type Iiia
OMIM:608474	Myopia 5, Autosomal Dominant
OMIM:608484	Congenital Corneal Opacities, Cornea Guttata, And Corectopia
OMIM:608540	Congenital Disorder Of Glycosylation, Type Ik
OMIM:608545	Larsen-Like Syndrome
OMIM:608553	Leber Congenital Amaurosis 9
OMIM:608565	Deafness, Autosomal Recessive 35
OMIM:608567	Sick Sinus Syndrome 1, Autosomal Recessive
OMIM:608569	Cardiomyopathy, Dilated, 1o
OMIM:608571	Ulnar/Fibular Ray Defect And Brachydactyly
OMIM:608572	Burn-Mckeown Syndrome
OMIM:608578	Cerebrofrontofacial Syndrome
OMIM:608579	Severe Cutaneous Adverse Reaction, Susceptibility To
OMIM:608583	Atrial Fibrillation, Familial, 1
OMIM:608591	Charcot-Marie-Tooth Disease, Axonal, Type 2g
OMIM:608594	Lipodystrophy, Congenital Generalized, Type 1
OMIM:608600	Lipodystrophy, Familial Partial, Type 1
OMIM:608611	Ribose 5-Phosphate Isomerase Deficiency
OMIM:608612	Mandibuloacral Dysplasia With Type B Lipodystrophy
OMIM:608615	Oligodontia-Colorectal Cancer Syndrome
OMIM:608622	Hypertension, Diastolic, Resistance To
OMIM:608624	Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
OMIM:608627	Amyotrophic Lateral Sclerosis 8
OMIM:608629	Joubert Syndrome 3
OMIM:608631	Asperger Syndrome, Susceptibility To, 2
OMIM:608634	Neuronopathy, Distal Hereditary Motor, Type Iib
OMIM:608636	Chromosome 15q11-Q13 Duplication Syndrome
OMIM:608638	Asperger Syndrome, Susceptibility To, 1
OMIM:608641	Deafness, Autosomal Dominant 28
OMIM:608643	Aromatic L-Amino Acid Decarboxylase Deficiency
OMIM:608644	Ciliary Dyskinesia, Primary, 3
OMIM:608647	Ciliary Dyskinesia, Primary, 5
OMIM:608649	Ichthyosis Prematurity Syndrome
OMIM:608654	Neuropathy, Hereditary Sensory And Autonomic, Type V
OMIM:608673	Charcot-Marie-Tooth Disease, Axonal, Type 2l
OMIM:608681	Spondylocostal Dysostosis 2, Autosomal Recessive
OMIM:608687	Spinocerebellar Ataxia 20
OMIM:608688	Aicar Transformylase/Imp Cyclohydrolase Deficiency
OMIM:608703	Spinocerebellar Ataxia 25
OMIM:608709	Lipodystrophy, Partial, Acquired, Susceptibility To
OMIM:608710	Wegener Granulomatosis
OMIM:608716	Microcephaly 5, Primary, Autosomal Recessive
OMIM:608720	Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
OMIM:608728	Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
OMIM:608747	Insulin-Like Growth Factor I Deficiency
OMIM:608751	Cardiomyopathy, Familial Hypertrophic, 8
OMIM:608758	Cardiomyopathy, Familial Hypertrophic, 10
OMIM:608762	Epilepsy, Idiopathic Generalized, Susceptibility To, 3
OMIM:608763	Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:608768	Spinocerebellar Ataxia 8
OMIM:608776	Congenital Disorder Of Glycosylation, Type Il
OMIM:608779	Congenital Disorder Of Glycosylation, Type Iie
OMIM:608782	Pyruvate Dehydrogenase Phosphatase Deficiency
OMIM:608799	Congenital Disorder Of Glycosylation, Type Ie
OMIM:608800	Sudden Infant Death With Dysgenesis Of The Testes Syndrome
OMIM:608804	Leukodystrophy, Hypomyelinating, 2
OMIM:608805	Avascular Necrosis Of Femoral Head, Primary
OMIM:608807	Muscular Dystrophy, Limb-Girdle, Type 2j
OMIM:608808	Transposition Of The Great Arteries, Dextro-Looped 1
OMIM:608809	Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
OMIM:608810	Myopathy, Myofibrillar, 2
OMIM:608836	Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
OMIM:608837	Carney Complex Variant
OMIM:608840	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
OMIM:608864	Orofacial Cleft 6, Susceptibility To
OMIM:608874	Orofacial Cleft 5
OMIM:608890	Waardenburg Syndrome, Type 2d
OMIM:608895	Macular Degeneration, Age-Related, 3
OMIM:608898	Hemophagocytic Lymphohistiocytosis, Familial, 3
OMIM:608902	Drug Metabolism, Poor, Cyp2d6-Related
OMIM:608908	Myopia 6
OMIM:608930	Myasthenic Syndrome, Congenital, Fast-Channel
OMIM:608931	Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
OMIM:608940	Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
OMIM:608957	Cd8 Deficiency, Familial
OMIM:608967	Loeys-Dietz Syndrome, Type 2a
OMIM:608971	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM:608978	Meacham Syndrome
OMIM:608980	Bifid Nose With Or Without Anorectal And Renal Anomalies
OMIM:608983	Moved To 115700
OMIM:608984	Ataxia, Sensory, 1, Autosomal Dominant
OMIM:608995	Dyslexia, Susceptibility To, 8
OMIM:608996	Premature Ovarian Failure 3
OMIM:609006	Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
OMIM:609008	Marfanoid Habitus With Situs Inversus
OMIM:609015	Trifunctional Protein Deficiency
OMIM:609016	Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
OMIM:609021	Peripheral Cone Dystrophy
OMIM:609029	Emanuel Syndrome
OMIM:609033	Posterior Column Ataxia With Retinitis Pigmentosa
OMIM:609037	Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
OMIM:609039	Narcolepsy 3
OMIM:609040	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
OMIM:609041	Spastic Paraplegia 27, Autosomal Recessive
OMIM:609048	Melanoma, Cutaneous Malignant, Susceptibility To, 3
OMIM:609049	Pierson Syndrome
OMIM:609052	Spondylometaphyseal Dysplasia, Type A4
OMIM:609053	Fanconi Anemia, Complementation Group I
OMIM:609054	Fanconi Anemia, Complementation Group J
OMIM:609055	Ceroid Lipofuscinosis, Neuronal, 9
OMIM:609056	Amish Infantile Epilepsy Syndrome
OMIM:609057	Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
OMIM:609060	Combined Oxidative Phosphorylation Deficiency 1
OMIM:609069	Pancreatic And Cerebellar Agenesis
OMIM:609070	Hemoglobin, High Oxygen Saturation Of
OMIM:609115	Limb-Girdle Muscular Dystrophy, Type 1g
OMIM:609129	Auditory Neuropathy, Autosomal Dominant, 1
OMIM:609136	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
OMIM:609140	Corneal Dystrophy, Posterior Polymorphous, 2
OMIM:609141	Corneal Dystrophy, Posterior Polymorphous, 3
OMIM:609152	Hyperthyroidism, Nonautoimmune
OMIM:609161	Striatal Degeneration, Autosomal Dominant
OMIM:609162	Czech Dysplasia
OMIM:609165	Erythroderma, Ichthyosiform, Congenital Reticular
OMIM:609166	Branchiogenic-Deafness Syndrome
OMIM:609180	Congenital Disorder Of Glycosylation, Type If
OMIM:609192	Loeys-Dietz Syndrome, Type 1a
OMIM:609195	Spastic Paraplegia 26, Autosomal Recessive
OMIM:609197	Glucocorticoid Deficiency 3
OMIM:609200	Myopathy, Myofibrillar, 3
OMIM:609218	Foveal Hypoplasia 2
OMIM:609220	Bruck Syndrome 2
OMIM:609222	Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant
OMIM:609223	Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
OMIM:609227	Griscelli Syndrome, Type 3
OMIM:609241	Schindler Disease, Type I
OMIM:609242	Kanzaki Disease
OMIM:609253	Febrile Seizures, Familial, 6
OMIM:609254	Senior-Loken Syndrome 5
OMIM:609255	Febrile Seizures, Familial, 5
OMIM:609260	Charcot-Marie-Tooth Disease, Axonal, Type 2a2
OMIM:609265	Li-Fraumeni Syndrome 2
OMIM:609270	Spinocerebellar Ataxia, Autosomal Recessive 7
OMIM:609273	Nemaline Myopathy 6
OMIM:609283	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 2
OMIM:609284	Nemaline Myopathy 1
OMIM:609285	Nemaline Myopathy 4
OMIM:609286	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3
OMIM:609304	Epileptic Encephalopathy, Early Infantile, 3
OMIM:609306	Spinocerebellar Ataxia 26
OMIM:609307	Spinocerebellar Ataxia 27
OMIM:609308	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
OMIM:609310	Colorectal Cancer, Hereditary Nonpolyposis, Type 2
OMIM:609311	Charcot-Marie-Tooth Disease, Type 4h
OMIM:609313	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
OMIM:609322	Rhabdoid Tumor Predisposition Syndrome 1
OMIM:609324	Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
OMIM:609325	Epiphyseal Dysplasia, Multiple, With Miniepiphyses
OMIM:609338	Carotid Intimal Medial Thickness 1
OMIM:609340	Spastic Paraplegia 28, Autosomal Recessive
OMIM:609345	Cerebrorenodigital Syndrome With Limb Malformations And Triradiate Acetabula
OMIM:609352	Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
OMIM:609376	Cataract 35
OMIM:609384	Fibrosis Of Extraocular Muscles, Congenital, 3c
OMIM:609404	Preeclampsia/Eclampsia 4
OMIM:609425	Chromosome 3q29 Deletion Syndrome
OMIM:609428	Tukel Syndrome
OMIM:609432	Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
OMIM:609438	Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
OMIM:609439	Deafness, Autosomal Recessive 48
OMIM:609441	Chondrodysplasia, Acromesomelic, With Genital Anomalies
OMIM:609442	Valproate Embryopathy, Susceptibility To
OMIM:609446	Generalized Epilepsy And Paroxysmal Dyskinesia
OMIM:609452	Myopathy, Myofibrillar, 4
OMIM:609454	Supranuclear Palsy, Progressive, 2
OMIM:609456	Muscular Dystrophy, Congenital, Merosin-Positive
OMIM:609460	Goldberg-Shprintzen Megacolon Syndrome
OMIM:609464	Sarcoidosis, Early-Onset
OMIM:609465	Al-Gazali Syndrome
OMIM:609500	Myopathy, Autophagic Vacuolar, Infantile-Onset
OMIM:609508	Stickler Syndrome, Type I, Nonsyndromic Ocular
OMIM:609524	Myopathy, Myofibrillar, 5
OMIM:609528	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
OMIM:609529	Immunoglobulin A Deficiency 2
OMIM:609533	Deafness, Autosomal Recessive 23
OMIM:609535	Drug Metabolism, Poor, Cyp2c19-Related
OMIM:609536	Complement Component 5 Deficiency
OMIM:609541	Spastic Paraplegia, Optic Atrophy, And Neuropathy
OMIM:609549	Nanophthalmos 2
OMIM:609560	Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
OMIM:609566	Parietal Foramina 3
OMIM:609579	Scaphocephaly, Maxillary Retrusion, And Mental Retardation
OMIM:609583	Joubert Syndrome 4
OMIM:609597	Parietal Foramina 2
OMIM:609612	Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
OMIM:609616	Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
OMIM:609620	Short Qt Syndrome 1
OMIM:609621	Short Qt Syndrome 2
OMIM:609622	Short Qt Syndrome 3
OMIM:609625	Chromosome 10q26 Deletion Syndrome
OMIM:609628	Majeed Syndrome
OMIM:609634	Migraine, Familial Hemiplegic, 3
OMIM:609636	Alzheimer Disease 10
OMIM:609637	Holoprosencephaly 5
OMIM:609638	Epidermolysis Bullosa, Lethal Acantholytic
OMIM:609646	Deafness, Autosomal Recessive 42
OMIM:609647	Deafness, Autosomal Recessive 46
OMIM:609649	Trichilemmal Cyst 1
OMIM:609654	Short Stature And Facioauriculothoracic Malformations
OMIM:609655	Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
OMIM:609698	Thyroid Hormone Metabolism, Abnormal
OMIM:609706	Deafness, Autosomal Recessive 53
OMIM:609727	Spastic Paraplegia 29, Autosomal Dominant
OMIM:609734	Proopiomelanocortin Deficiency
OMIM:609741	Cataract 22
OMIM:609796	Peeling Skin Syndrome, Acral Type
OMIM:609800	Generalized Epilepsy With Febrile Seizures Plus, Type 4
OMIM:609808	Hamartoma, Precalcaneal Congenital Fibrolipomatous
OMIM:609812	Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
OMIM:609813	Spondylocostal Dysostosis 3, Autosomal Recessive
OMIM:609814	Complement Factor H Deficiency
OMIM:609820	Erythrocytosis, Familial, 3
OMIM:609821	Bleeding Disorder, Platelet-Type, 8
OMIM:609823	Deafness, Autosomal Recessive 28
OMIM:609886	Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
OMIM:609887	Glaucoma 1, Open Angle, G
OMIM:609889	Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity
OMIM:609909	Cardiomyopathy, Dilated, 1p
OMIM:609923	Retinitis Pigmentosa 31
OMIM:609924	Aminoacylase 1 Deficiency
OMIM:609939	Systemic Lupus Erythematosus, Susceptibility To, 6
OMIM:609941	Deafness, Autosomal Recessive 51
OMIM:609942	Noonan Syndrome 3
OMIM:609943	Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
OMIM:609944	Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
OMIM:609945	Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
OMIM:609968	Hyperinsulinemic Hypoglycemia, Familial, 5
OMIM:609975	Hyperinsulinemic Hypoglycemia, Familial, 4
OMIM:609981	Natural Killer Cell And Glucocorticoid Deficiency With Dna Repair Defect
OMIM:609993	Osteosclerosis With Ichthyosis And Premature Ovarian Failure
OMIM:610003	Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
OMIM:610006	2-Methylbutyryl-Coa Dehydrogenase Deficiency
OMIM:610015	Glutamine Deficiency, Congenital
OMIM:610017	Multiple Synostoses Syndrome 2
OMIM:610019	Cataract 18
OMIM:610021	Hyperinsulinemic Hypoglycemia, Familial, 7
OMIM:610023	Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
OMIM:610024	Retinal Cone Dystrophy 3a
OMIM:610031	Polymicrogyria, Symmetric Or Asymmetric
OMIM:610042	Cortical Dysplasia-Focal Epilepsy Syndrome
OMIM:610048	Corneal Dystrophy, Congenital Stromal
OMIM:610069	Polyposis Syndrome, Hereditary Mixed, 2
OMIM:610090	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
OMIM:610092	Microphthalmia, Isolated, With Coloboma 3
OMIM:610093	Microphthalmia, Isolated 2
OMIM:610099	Myopathy, Distal, 3
OMIM:610100	Giant Axonal Neuropathy, Autosomal Dominant
OMIM:610102	Complement Component 7 Deficiency
OMIM:610125	Microphthalmia, Syndromic 5
OMIM:610127	Ceroid Lipofuscinosis, Neuronal, 10
OMIM:610131	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
OMIM:610140	Heart-Hand Syndrome, Slovenian Type
OMIM:610143	Deafness, Autosomal Recessive 62
OMIM:610153	Deafness, Autosomal Recessive 49
OMIM:610154	Deafness, Autosomal Recessive 44
OMIM:610156	Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis
OMIM:610158	Corneal Dystrophy, Fuchs Endothelial, 2
OMIM:610163	Immunodeficiency Due To Defect In Cd3-Zeta
OMIM:610168	Loeys-Dietz Syndrome, Type 1b
OMIM:610181	Aicardi-Goutieres Syndrome 2
OMIM:610185	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
OMIM:610187	Diaphragmatic Hernia 3
OMIM:610188	Joubert Syndrome 5
OMIM:610189	Senior-Loken Syndrome 6
OMIM:610193	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
OMIM:610198	3-Methylglutaconic Aciduria, Type V
OMIM:610199	Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
OMIM:610202	Cataract 21, Multiple Types
OMIM:610204	Pontocerebellar Hypoplasia, Type 5
OMIM:610205	Alagille Syndrome 2
OMIM:610208	Migraine With Or Without Aura, Susceptibility To, 10
OMIM:610209	Migraine With Or Without Aura, Susceptibility To, 11
OMIM:610217	Neurodegeneration With Brain Iron Accumulation 2b
OMIM:610220	Deafness, Autosomal Recessive 59
OMIM:610227	Seborrhea-Like Dermatitis With Psoriasiform Elements
OMIM:610244	Spastic Paraplegia 33, Autosomal Dominant
OMIM:610245	Spinocerebellar Ataxia 23
OMIM:610246	Spinocerebellar Ataxia 28
OMIM:610247	Esophagitis, Eosinophilic, 1
OMIM:610248	Deafness, Autosomal Recessive 65
OMIM:610250	Spastic Paraplegia 31, Autosomal Dominant
OMIM:610251	Alcohol Sensitivity, Acute
OMIM:610253	Kleefstra Syndrome
OMIM:610256	Aphakia, Congenital Primary
OMIM:610265	Deafness, Autosomal Recessive 67
OMIM:610279	Pachygyria, Frontotemporal
OMIM:610282	Retinitis Pigmentosa 35
OMIM:610283	Cone-Rod Dystrophy 10
OMIM:610293	Glycosylphosphatidylinositol Deficiency
OMIM:610297	Parkinson Disease 13, Autosomal Dominant, Susceptibility To
OMIM:610313	Cold-Induced Sweating Syndrome 2
OMIM:610319	Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
OMIM:610329	Aicardi-Goutieres Syndrome 3
OMIM:610333	Aicardi-Goutieres Syndrome 4
OMIM:610338	Right Pulmonary Artery, Anomalous Origin Of, Familial
OMIM:610353	Epilepsy, Nocturnal Frontal Lobe, 4
OMIM:610356	Retinal Cone Dystrophy 3b
OMIM:610357	Spastic Paraplegia 30, Autosomal Recessive
OMIM:610359	Retinitis Pigmentosa 33
OMIM:610370	Diarrhea 4, Malabsorptive, Congenital
OMIM:610374	Diabetes Mellitus, Transient Neonatal, 2
OMIM:610377	Mevalonic Aciduria
OMIM:610380	Loeys-Dietz Syndrome, Type 2b
OMIM:610381	Cone-Rod Dystrophy 11
OMIM:610382	Prosopagnosia, Hereditary
OMIM:610419	Deafness, Autosomal Recessive 68
OMIM:610420	Preauricular Tag, Isolated, Autosomal Dominant, 1
OMIM:610422	Alopecia-Mental Retardation Syndrome 2
OMIM:610425	Cataract 23
OMIM:610426	Moved To 610425
OMIM:610427	Night Blindness, Congenital Stationary, Type 2b
OMIM:610441	Testicular Microlithiasis
OMIM:610442	Spondyloepimetaphyseal Dysplasia, Genevieve Type
OMIM:610443	Koolen-De Vries Syndrome
OMIM:610444	Night Blindness, Congenital Stationary, Autosomal Dominant 3
OMIM:610445	Night Blindness, Congenital Stationary, Autosomal Dominant 1
OMIM:610448	Chilblain Lupus 1
OMIM:610455	Tumoral Calcinosis, Normophosphatemic, Familial
OMIM:610460	Thiopurine S-Methyltransferase Deficiency
OMIM:610474	Camptodactyly, Tall Stature, And Hearing Loss Syndrome
OMIM:610475	Pigmented Nodular Adrenocortical Disease, Primary, 2
OMIM:610476	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
OMIM:610478	Retinal Cone Dystrophy 4
OMIM:610489	Pigmented Nodular Adrenocortical Disease, Primary, 1
OMIM:610498	Combined Oxidative Phosphorylation Deficiency 2
OMIM:610504	Preterm Premature Rupture Of The Membranes
OMIM:610505	Combined Oxidative Phosphorylation Deficiency 3
OMIM:610508	Maturity-Onset Diabetes Of The Young, Type 7
OMIM:610532	Leukodystrophy, Hypomyelinating, 5
OMIM:610535	Glaucoma 1, Open Angle, M
OMIM:610536	Mandibulofacial Dysostosis, Guion-Almeida Type
OMIM:610539	Gaucher Disease, Atypical, Due To Saposin C Deficiency
OMIM:610542	Myasthenic Syndrome, Congenital, With Tubular Aggregates 1
OMIM:610543	Chromosome 16p13.3 Deletion Syndrome, Proximal
OMIM:610549	Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
OMIM:610551	Herpes Simplex Encephalitis, Susceptibility To, 1
OMIM:610582	Diabetes Mellitus, Transient Neonatal, 3
OMIM:610599	Retinitis Pigmentosa 36
OMIM:610600	Corticosterone Methyloxidase Type Ii Deficiency
OMIM:610612	Leber Congenital Amaurosis 12
OMIM:610618	Angioedema, Hereditary, Type Iii
OMIM:610623	Cataract 11, Multiple Types
OMIM:610628	Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
OMIM:610629	Diamond-Blackfan Anemia 3
OMIM:610634	Moved To 115650
OMIM:610644	Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
OMIM:610651	Xeroderma Pigmentosum, Complementation Group B
OMIM:610655	Telangiectasia, Hereditary Hemorrhagic, Type 4
OMIM:610678	Combined Oxidative Phosphorylation Deficiency 4
OMIM:610680	Holoprosencephaly, Recurrent Infections, And Monocytosis
OMIM:610682	Osteogenesis Imperfecta, Type Vii
OMIM:610687	Nemaline Myopathy 7
OMIM:610688	Joubert Syndrome 6
OMIM:610698	Macular Degeneration, Age-Related, 4
OMIM:610706	Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
OMIM:610708	Optic Atrophy 5
OMIM:610713	Brachydactyly-Syndactyly Syndrome
OMIM:610717	Neutral Lipid Storage Disease With Myopathy
OMIM:610725	Nephrotic Syndrome, Type 3
OMIM:610733	Noonan Syndrome 4
OMIM:610738	Neutropenia, Severe Congenital, 3, Autosomal Recessive
OMIM:610743	Spinocerebellar Ataxia, Autosomal Recessive 8
OMIM:610755	Multiple Endocrine Neoplasia, Type Iv
OMIM:610756	Cerebrooculofacioskeletal Syndrome 2
OMIM:610758	Cerebrooculofacioskeletal Syndrome 4
OMIM:610759	Cornelia De Lange Syndrome 3
OMIM:610765	Moved To 602400
OMIM:610768	Congenital Disorder Of Glycosylation, Type Im
OMIM:610773	Mitochondrial Phosphate Carrier Deficiency
OMIM:610797	Epiphyseal Dysplasia, Baumann Type
OMIM:610798	Immunodeficiency Due To Defect In Mapbp-Interacting Protein
OMIM:610799	Invasive Pneumococcal Disease, Recurrent Isolated, 1
OMIM:610805	Congenital Anomalies Of Kidney And Urinary Tract, Susceptibility To
OMIM:610828	Holoprosencephaly 7
OMIM:610829	Holoprosencephaly 9
OMIM:610832	Fanconi Anemia, Complementation Group N
OMIM:610840	Mitral Valve Prolapse, Myxomatous 3
OMIM:610842	Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
OMIM:610852	Ciliary Dyskinesia, Primary, 6
OMIM:610878	Vesicoureteral Reflux 2
OMIM:610883	Potocki-Lupski Syndrome
OMIM:610896	Branchiootorenal Syndrome 2
OMIM:610910	Pulmonary Alveolar Proteinosis, Acquired
OMIM:610913	Surfactant Metabolism Dysfunction, Pulmonary, 2
OMIM:610915	Osteogenesis Imperfecta, Type Viii
OMIM:610921	Surfactant Metabolism Dysfunction, Pulmonary, 3
OMIM:610947	Coronary Artery Disease, Autosomal Dominant 2
OMIM:610951	Ceroid Lipofuscinosis, Neuronal, 7
OMIM:610954	Pitt-Hopkins Syndrome
OMIM:610965	Xfe Progeroid Syndrome
OMIM:610967	Osteogenesis Imperfecta, Type V
OMIM:610968	Osteogenesis Imperfecta, Type Xi
OMIM:610978	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
OMIM:610984	Complement Factor I Deficiency
OMIM:610992	Phosphoserine Aminotransferase Deficiency
OMIM:611022	Deafness, Autosomal Recessive 24
OMIM:611031	Episodic Kinesigenic Dyskinesia 2
OMIM:611038	Microphthalmia, Isolated 3
OMIM:611040	Microphthalmia, Isolated 5
OMIM:611067	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
OMIM:611087	Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
OMIM:611090	Mental Retardation, Autosomal Recessive 12
OMIM:611091	Mental Retardation, Autosomal Recessive 5
OMIM:611092	Mental Retardation, Autosomal Recessive 6
OMIM:611093	Mental Retardation, Autosomal Recessive 7
OMIM:611102	Deafness, Sensorineural, And Male Infertility
OMIM:611105	Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
OMIM:611126	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
OMIM:611131	Retinitis Pigmentosa 37
OMIM:611134	Meckel Syndrome, Type 4
OMIM:611147	Paroxysmal Nonkinesigenic Dyskinesia 2
OMIM:611174	Hamamy Syndrome
OMIM:611182	Congenital Disorder Of Glycosylation, Type Iih
OMIM:611209	Congenital Disorder Of Glycosylation, Type Iig
OMIM:611225	Spastic Paraplegia 18, Autosomal Recessive
OMIM:611228	Charcot-Marie-Tooth Disease, Type 4j
OMIM:611252	Spastic Paraplegia 32, Autosomal Recessive
OMIM:611263	Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
OMIM:611277	Generalized Epilepsy With Febrile Seizures Plus, Type 3
OMIM:611283	Isobutyryl-Coa Dehydrogenase Deficiency
OMIM:611284	Dystonia, Focal, Task-Specific
OMIM:611291	Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation
OMIM:611302	Spastic Ataxia 2, Autosomal Recessive
OMIM:611307	Muscular Dystrophy, Limb-Girdle, Type 2l
OMIM:611363	Atrial Septal Defect 4
OMIM:611364	Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
OMIM:611369	Lethal Congenital Contracture Syndrome 3
OMIM:611376	Mungan Syndrome
OMIM:611377	Brachydactyly, Type B2
OMIM:611383	Usher Syndrome, Type Iid
OMIM:611390	Spastic Ataxia 3, Autosomal Recessive
OMIM:611391	Cataract 33
OMIM:611407	Cardiomyopathy, Dilated, 1w
OMIM:611426	Tented Eyebrows
OMIM:611431	Legius Syndrome
OMIM:611451	Deafness, Autosomal Recessive 63
OMIM:611465	Gallbladder Disease 4
OMIM:611489	Corticosteroid-Binding Globulin Deficiency
OMIM:611490	Osteopetrosis,  Autosomal Recessive 4
OMIM:611493	Atrial Fibrillation, Familial, 4
OMIM:611497	Osteopetrosis, Autosomal Recessive 6
OMIM:611498	Nephronophthisis 7
OMIM:611521	Tyrosine Kinase 2 Deficiency
OMIM:611523	Pontocerebellar Hypoplasia, Type 6
OMIM:611528	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
OMIM:611544	Cataract 17, Multiple Types
OMIM:611548	Premature Ovarian Failure 5
OMIM:611553	Noonan Syndrome 5
OMIM:611554	Leopard Syndrome 2
OMIM:611556	Glycogen Storage Disease 0, Muscle
OMIM:611560	Joubert Syndrome 7
OMIM:611561	Meckel Syndrome, Type 5
OMIM:611571	Otosclerosis 4
OMIM:611572	Otosclerosis 7
OMIM:611584	Waardenburg Syndrome, Type 2e
OMIM:611588	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
OMIM:611590	Renal Tubular Acidosis, Distal, With Hemolytic Anemia
OMIM:611597	Cataract 12, Multiple Types
OMIM:611603	Lissencephaly 3
OMIM:611615	Cardiomyopathy, Dilated, 1x
OMIM:611630	Epilepsy, Familial Temporal Lobe, 3
OMIM:611631	Epilepsy, Familial Temporal Lobe, 4
OMIM:611634	Febrile Seizures, Familial, 9
OMIM:611637	Primary Lateral Sclerosis, Adult, 1
OMIM:611638	Microphthalmia, Isolated, With Coloboma 5
OMIM:611694	Dystonia With Cerebellar Atrophy
OMIM:611702	Spondylometaphyseal Dysplasia, East African Type
OMIM:611705	Myopathy, Early-Onset, With Fatal Cardiomyopathy
OMIM:611717	Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
OMIM:611718	Hypomagnesemia 4, Renal
OMIM:611719	Combined Oxidative Phosphorylation Deficiency 5
OMIM:611721	Combined Saposin Deficiency
OMIM:611722	Krabbe Disease, Atypical, Due To Saposin A Deficiency
OMIM:611726	Epilepsy, Progressive Myoclonic 3, With Or Without Intracellular Inclusions
OMIM:611755	Leber Congenital Amaurosis 10
OMIM:611762	Familial Cold Autoinflammatory Syndrome 2
OMIM:611771	Lipoprotein Glomerulopathy
OMIM:611773	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
OMIM:611775	Kawasaki Disease
OMIM:611777	Brugada Syndrome 2
OMIM:611783	Erythrocytosis, Familial, 4
OMIM:611788	Aortic Aneurysm, Familial Thoracic 6
OMIM:611804	Elliptocytosis 1
OMIM:611808	Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
OMIM:611809	Bestrophinopathy, Autosomal Recessive
OMIM:611812	46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
OMIM:611816	Temple-Baraitser Syndrome
OMIM:611818	Long Qt Syndrome 9
OMIM:611819	Long Qt Syndrome 10
OMIM:611820	Long Qt Syndrome 11
OMIM:611863	Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
OMIM:611867	Chromosome 22q11.2 Deletion Syndrome, Distal
OMIM:611875	Brugada Syndrome 3
OMIM:611876	Brugada Syndrome 4
OMIM:611878	Cardiomyopathy, Dilated, 1y
OMIM:611879	Cardiomyopathy, Dilated, 1z
OMIM:611880	Cardiomyopathy, Dilated, 2a
OMIM:611881	Glycogen Storage Disease Xii
OMIM:611884	Ciliary Dyskinesia, Primary, 7
OMIM:611890	Lethal Arthrogryposis With Anterior Horn Cell Disease
OMIM:611895	Amyotrophic Lateral Sclerosis 9
OMIM:611907	Episodic Ataxia, Type 7
OMIM:611913	Chromosome 16p11.2 Deletion Syndrome, 593-Kb
OMIM:611926	Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
OMIM:611929	Camptodactyly Syndrome, Guadalajara, Type Iii
OMIM:611936	Chromosome 3q29 Duplication Syndrome
OMIM:611938	Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
OMIM:611943	Riddle Syndrome
OMIM:611944	Lymphedema, Hereditary, Ib
OMIM:611945	Spastic Paraplegia 37, Autosomal Dominant
OMIM:611948	Moved To 267750
OMIM:611953	Macular Degeneration, Age-Related, 11
OMIM:611961	Stevenson-Carey Syndrome
OMIM:611962	Hunter-Macdonald Syndrome
OMIM:612001	Chromosome 15q13.3 Deletion Syndrome
OMIM:612004	Thrombocytopenia 4
OMIM:612015	Congenital Disorder Of Glycosylation, Type In
OMIM:612016	Coenzyme Q10 Deficiency, Primary, 4
OMIM:612018	Cataract, Juvenile, With Microcornea And Glucosuria
OMIM:612020	Spastic Paraplegia 39, Autosomal Recessive
OMIM:612067	Dystonia 16
OMIM:612069	Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
OMIM:612073	Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
OMIM:612075	Mitochondrial Dna Depletion Syndrome 8a (Encephalomyopathic Type With Renal Tubulopathy)
OMIM:612076	Hypouricemia, Renal, 2
OMIM:612079	Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
OMIM:612089	Hypophosphatemic Rickets And Hyperparathyroidism
OMIM:612095	Retinitis Pigmentosa 41
OMIM:612096	Otosclerosis 8
OMIM:612097	Deafness, Unilateral, With Delayed Endolymphatic Hydrops
OMIM:612098	Cardiomyopathy, Familial Hypertrophic, 11
OMIM:612109	Oculoauricular Syndrome
OMIM:612119	Trehalase Deficiency
OMIM:612124	Cardiomyopathy, Familial Hypertrophic, 12
OMIM:612126	Glut1 Deficiency Syndrome 2
OMIM:612132	Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
OMIM:612138	Epidermolysis Bullosa Simplex With Pyloric Atresia
OMIM:612158	Cardiomyopathy, Dilated, 1aa
OMIM:612160	Histiocytoma, Angiomatoid Fibrous
OMIM:612164	Epileptic Encephalopathy, Early Infantile, 4
OMIM:612165	Retinitis Pigmentosa 29
OMIM:612198	Diastasis Recti And Weakness Of The Linea Alba
OMIM:612199	Cerebroretinal Microangiopathy With Calcifications And Cysts
OMIM:612201	Atrial Fibrillation, Familial, 6
OMIM:612219	Ewing Sarcoma
OMIM:612225	Maturity-Onset Diabetes Of The Young, Type 9
OMIM:612227	Diabetes Mellitus, Ketosis-Prone
OMIM:612229	Colorectal Cancer, Susceptibility To, 3
OMIM:612233	Leukodystrophy, Hypomyelinating, 4
OMIM:612237	Chondrosarcoma, Extraskeletal Myxoid
OMIM:612240	Atrial Fibrillation, Familial, 7
OMIM:612244	Inflammatory Bowel Disease 13
OMIM:612247	Crouzon Syndrome With Acanthosis Nigricans
OMIM:612260	Myd88 Deficiency
OMIM:612269	Epilepsy, Childhood Absence, Susceptibility To, 5
OMIM:612271	Skin/Hair/Eye Pigmentation, Variation In, 11
OMIM:612278	Inflammatory Bowel Disease 19
OMIM:612281	Ichthyosis, Congenital, Autosomal Recessive 6
OMIM:612284	Meckel Syndrome, Type 6
OMIM:612285	Joubert Syndrome 9
OMIM:612286	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
OMIM:612287	Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
OMIM:612289	Progeroid Syndrome, Congenital, Petty Type
OMIM:612290	Microtia, Hearing Impairment, And Cleft Palate
OMIM:612291	Joubert Syndrome 8
OMIM:612292	Birk-Barel Mental Retardation Dysmorphism Syndrome
OMIM:612300	Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
OMIM:612301	Osteopetrosis, Autosomal Recessive 7
OMIM:612304	Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
OMIM:612310	Premature Ovarian Failure 6
OMIM:612313	Glass Syndrome
OMIM:612319	Spastic Paraplegia 35, Autosomal Recessive
OMIM:612335	Spastic Paraplegia 38, Autosomal Dominant
OMIM:612336	Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
OMIM:612337	Mental Retardation, Autosomal Dominant 22
OMIM:612347	Jervell And Lange-Nielsen Syndrome 2
OMIM:612348	Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
OMIM:612350	Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
OMIM:612353	Porokeratosis 6, Disseminated Superficial Actinic Type
OMIM:612356	Heparin Cofactor Ii Deficiency
OMIM:612359	Cowden Syndrome 2
OMIM:612370	Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
OMIM:612376	Acute Promyelocytic Leukemia
OMIM:612379	Congenital Disorder Of Glycosylation, Type Iq
OMIM:612389	Pontocerebellar Hypoplasia, Type 2b
OMIM:612390	Pontocerebellar Hypoplasia, Type 2c
OMIM:612391	Moved To 602782
OMIM:612394	Bone Fragility With Contractures, Arterial Rupture, And Deafness
OMIM:612406	Dystonia 17, Torsion, Autosomal Recessive
OMIM:612416	Factor Xi Deficiency
OMIM:612422	Cardiomyopathy, Familial Restrictive, 3
OMIM:612423	Prekallikrein Deficiency
OMIM:612437	Epilepsy, Progressive Myoclonic 1b
OMIM:612438	Leukodystrophy, Hypomyelinating, 6
OMIM:612443	Moved To 612319
OMIM:612444	Ciliary Dyskinesia, Primary, 9
OMIM:612446	Complement Component 6 Deficiency
OMIM:612447	Skeletal Defects, Genital Hypoplasia, And Mental Retardation
OMIM:612462	Pseudohypoparathyroidism, Type Ic
OMIM:612463	Pseudopseudohypoparathyroidism
OMIM:612474	Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
OMIM:612475	Chromosome 1q21.1 Duplication Syndrome
OMIM:612513	Chromosome 2p16.1-P15 Deletion Syndrome
OMIM:612518	Ciliary Dyskinesia, Primary, 10
OMIM:612520	Diabetes Mellitus, Insulin-Dependent, 20
OMIM:612526	Lipodystrophy, Congenital Generalized, Type 3
OMIM:612527	Diamond-Blackfan Anemia 4
OMIM:612528	Diamond-Blackfan Anemia 5
OMIM:612529	Amelogenesis Imperfecta, Hypomaturation Type, Iia2
OMIM:612530	Chromosome 1q41-Q42 Deletion Syndrome
OMIM:612539	Spastic Paraplegia 42, Autosomal Dominant
OMIM:612540	Myopathy, Congenital, Compton-North
OMIM:612541	Neutropenia, Severe Congenital, 4, Autosomal Recessive
OMIM:612551	Focal Segmental Glomerulosclerosis 4, Susceptibility To
OMIM:612555	Breast-Ovarian Cancer, Familial, Susceptibility To, 2
OMIM:612561	Diamond-Blackfan Anemia 6
OMIM:612562	Diamond-Blackfan Anemia 7
OMIM:612563	Diamond-Blackfan Anemia 8
OMIM:612567	Inflammatory Bowel Disease 25, Autosomal Recessive
OMIM:612572	Retinitis Pigmentosa 46
OMIM:612576	Chromosome 17p13.3, Telomeric, Duplication Syndrome
OMIM:612577	Amyotrophic Lateral Sclerosis 11
OMIM:612580	Mental Retardation, Autosomal Dominant 3
OMIM:612581	Mental Retardation, Autosomal Dominant 4
OMIM:612582	Chromosome 6pter-P24 Deletion Syndrome
OMIM:612591	Colorectal Cancer, Susceptibility To, 10
OMIM:612621	Mental Retardation, Autosomal Dominant 5
OMIM:612626	Chromosome 15q26-Qter Deletion Syndrome
OMIM:612631	Adenylate Kinase Deficiency, Hemolytic Anemia Due To
OMIM:612643	Deafness, Autosomal Dominant 3b
OMIM:612644	Deafness, Autosomal Dominant 2b
OMIM:612645	Deafness, Autosomal Recessive 1b
OMIM:612649	Ciliary Dyskinesia, Primary, 11
OMIM:612650	Ciliary Dyskinesia, Primary, 12
OMIM:612651	Endocrine-Cerebroosteodysplasia
OMIM:612652	Moved To 219150
OMIM:612653	Spherocytosis, Type 4
OMIM:612656	Episodic Ataxia, Type 6
OMIM:612657	Cone-Rod Dystrophy 12
OMIM:612671	Uric Acid Concentration, Serum, Quantitative Trait Locus 4
OMIM:612674	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
OMIM:612690	Spherocytosis, Type 5
OMIM:612692	Agammaglobulinemia 6, Autosomal Recessive
OMIM:612702	Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
OMIM:612703	Microcephaly 7, Primary, Autosomal Recessive
OMIM:612712	Leber Congenital Amaurosis 13
OMIM:612713	Kahrizi Syndrome
OMIM:612714	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
OMIM:612716	Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
OMIM:612717	Myopia 15, Autosomal Dominant
OMIM:612718	Cerebral Creatine Deficiency Syndrome 3
OMIM:612726	Hardikar Syndrome
OMIM:612731	Faciocardiomelic Syndrome
OMIM:612736	Cerebral Creatine Deficiency Syndrome 2
OMIM:612740	Porphyria, Acute Hepatic
OMIM:612775	Cone-Rod Dystrophy 9
OMIM:612776	Hypoglossia With Situs Inversus
OMIM:612780	Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
OMIM:612781	Isolated Growth Hormone Deficiency, Type Ib
OMIM:612782	Immunodeficiency 9
OMIM:612783	Immunodeficiency 10
OMIM:612794	Atrial Septal Defect 5
OMIM:612798	Question Mark Ears, Isolated
OMIM:612813	Spondyloepimetaphyseal Dysplasia, Aggrecan Type
OMIM:612838	Brugada Syndrome 5
OMIM:612840	Leukocyte Adhesion Deficiency, Type Iii
OMIM:612843	Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
OMIM:612847	Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
OMIM:612852	Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
OMIM:612863	Chromosome 6q24-Q25 Deletion Syndrome
OMIM:612867	Corneal Dystrophy, Subepithelial Mucinous
OMIM:612868	Corneal Dystrophy, Posterior Amorphous
OMIM:612877	Cardiomyopathy, Dilated, 1bb
OMIM:612900	Cerebral Palsy, Spastic Quadriplegic, 2
OMIM:612908	Keratosis Palmoplantaris Striata Ii
OMIM:612913	Orofaciodigital Syndrome Xi
OMIM:612916	Zechi-Ceide Syndrome
OMIM:612917	Giacheti Syndrome
OMIM:612918	Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
OMIM:612921	Three M Syndrome 2
OMIM:612922	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
OMIM:612923	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
OMIM:612924	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
OMIM:612925	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
OMIM:612926	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
OMIM:612932	Glycogen Storage Disease Xiii
OMIM:612933	Glycogen Storage Disease Xi
OMIM:612934	Glycogen Storage Disease Xiv
OMIM:612936	Spastic Paraplegia 50, Autosomal Recessive
OMIM:612937	Congenital Disorder Of Glycosylation, Type Io
OMIM:612938	Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
OMIM:612940	Cutis Laxa, Autosomal Recessive, Type Iib
OMIM:612943	Retinitis Pigmentosa 42
OMIM:612946	Hadziselimovic Syndrome
OMIM:612947	Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
OMIM:612948	Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Features
OMIM:612949	Hypomyelination, Global Cerebral
OMIM:612951	Leukoencephalopathy, Cystic, Without Megalencephaly
OMIM:612952	Aicardi-Goutieres Syndrome 5
OMIM:612953	Parkinson Disease 14, Autosomal Recessive
OMIM:612954	Myopathy, Myofibrillar, 6
OMIM:612955	Long Qt Syndrome 12
OMIM:612956	Ventricular Fibrillation, Paroxysmal Familial, 2
OMIM:612961	Multiple Synostoses Syndrome 3
OMIM:612964	Premature Ovarian Failure 7
OMIM:612965	46,Xy Sex Reversal 3
OMIM:612975	Short Sleeper
OMIM:612989	Optic Atrophy 7
OMIM:612997	Spermatogenic Failure 7
OMIM:612998	Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
OMIM:612999	Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
OMIM:613000	Palmoplantar Keratoderma, Nonepidermolytic, Focal
OMIM:613001	Encephalocraniocutaneous Lipomatosis
OMIM:613002	Herpes Simplex Encephalitis, Susceptibility To, 2
OMIM:613005	Santos Syndrome
OMIM:613011	Lymphoproliferative Syndrome 1
OMIM:613013	Neuroblastoma, Susceptibility To, 2
OMIM:613020	Moved To 116600
OMIM:613021	Bronchiectasis With Or Without Elevated Sweat Chloride 2
OMIM:613024	Follicular Lymphoma, Susceptibility To, 1
OMIM:613026	Chromosome 19q13.11 Deletion Syndrome
OMIM:613027	Glycogen Storage Disease Ixc
OMIM:613034	Moved To 612541
OMIM:613038	Pituitary Hormone Deficiency, Combined, 1
OMIM:613060	Epilepsy, Idiopathic Generalized, Susceptibility To, 10
OMIM:613065	Leukemia, Acute Lymphoblastic
OMIM:613068	Neurodegeneration Due To Cerebral Folate Transport Deficiency
OMIM:613070	Liver Failure, Infantile, Transient
OMIM:613071	Bronchiectasis With Or Without Elevated Sweat Chloride 3
OMIM:613073	Metaphyseal Anadysplasia 2
OMIM:613074	Deafness, Autosomal Dominant 50
OMIM:613075	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
OMIM:613076	Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
OMIM:613077	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
OMIM:613078	Nijmegen Breakage Syndrome-Like Disorder
OMIM:613079	Deafness, Autosomal Recessive 77
OMIM:613080	46,Xy Sex Reversal 5
OMIM:613086	Glaucoma 3, Primary Congenital, D
OMIM:613087	Atrial Septal Defect 6
OMIM:613089	Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
OMIM:613090	Bartter Syndrome, Type 4b
OMIM:613091	Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
OMIM:613092	Hyperuricemic Nephropathy, Familial Juvenile, 2
OMIM:613093	Cone Dystrophy 4
OMIM:613094	Microphthalmia, Isolated 4
OMIM:613095	Polycystic Kidney Disease 2
OMIM:613096	Spastic Paraplegia 36, Autosomal Dominant
OMIM:613097	Tooth Agenesis, Selective, 6
OMIM:613100	Glaucoma 1, Open Angle, O
OMIM:613101	Hemophagocytic Lymphohistiocytosis, Familial, 5
OMIM:613102	Hypotrichosis And Recurrent Skin Vesicles
OMIM:613105	Choroidal Dystrophy, Central Areolar 2
OMIM:613107	Neutropenia, Severe Congenital, 2, Autosomal Dominant
OMIM:613108	Candidiasis, Familial, 4
OMIM:613112	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
OMIM:613115	Neuropathy, Hereditary Sensory And Autonomic, Type Iib
OMIM:613116	Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
OMIM:613118	Antithrombin Iii Deficiency
OMIM:613119	Brugada Syndrome 6
OMIM:613120	Brugada Syndrome 7
OMIM:613122	Cardiomyopathy, Dilated, 1cc
OMIM:613123	Brugada Syndrome 8
OMIM:613124	Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features
OMIM:613135	Parkinsonism-Dystonia, Infantile
OMIM:613144	Choroidal Dystrophy, Central Areolar 3
OMIM:613148	Inflammatory Bowel Disease 28, Autosomal Recessive
OMIM:613150	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
OMIM:613151	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3
OMIM:613152	Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4
OMIM:613153	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
OMIM:613154	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
OMIM:613155	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1
OMIM:613156	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2
OMIM:613157	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
OMIM:613158	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
OMIM:613159	Nephronophthisis-Like Nephropathy 1
OMIM:613161	Beta-Ureidopropionase Deficiency
OMIM:613162	Spastic Paraplegia 45, Autosomal Recessive
OMIM:613163	Gaba-Transaminase Deficiency
OMIM:613172	Cardiomyopathy, Dilated, 1dd
OMIM:613174	Chromosome 5p13 Duplication Syndrome
OMIM:613177	Cutis Laxa, Autosomal Recessive, Type Ic
OMIM:613179	Purine Nucleoside Phosphorylase Deficiency
OMIM:613180	Polymicrogyria With Optic Nerve Hypoplasia
OMIM:613192	Mental Retardation, Autosomal Recessive 13
OMIM:613193	Ciliary Dyskinesia, Primary, 13
OMIM:613194	Retinitis Pigmentosa 50
OMIM:613195	Weill-Marchesani-Like Syndrome
OMIM:613204	Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
OMIM:613205	Muscular Dystrophy, Congenital, Lmna-Related
OMIM:613206	Spastic Paraplegia 44, Autosomal Recessive
OMIM:613211	Amelogenesis Imperfecta, Hypomaturation Type, Iia3
OMIM:613215	Chromosome 17p13.3, Centromeric, Duplication Syndrome
OMIM:613216	Night Blindness, Congenital Stationary, Type 1c
OMIM:613217	Diarrhea 5, With Tufting Enteropathy, Congenital
OMIM:613224	Noonan Syndrome 6
OMIM:613225	Factor Xiii, A Subunit, Deficiency Of
OMIM:613227	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
OMIM:613229	Trichotillomania
OMIM:613235	Factor Xiii, B Subunit, Deficiency Of
OMIM:613237	Focal Segmental Glomerulosclerosis 5
OMIM:613239	Thyrotoxic Periodic Paralysis, Susceptibility To, 2
OMIM:613241	Pseudopili Annulati
OMIM:613243	Cardiomyopathy, Familial Hypertrophic, 13
OMIM:613244	Colorectal Cancer, Hereditary Nonpolyposis, Type 8
OMIM:613251	Cardiomyopathy, Familial Hypertrophic, 14
OMIM:613252	Cardiomyopathy, Dilated, 1ee
OMIM:613254	Tuberous Sclerosis 2
OMIM:613255	Cardiomyopathy, Familial Hypertrophic, 15
OMIM:613265	Waardenburg Syndrome, Type 4b
OMIM:613266	Waardenburg Syndrome, Type 4c
OMIM:613268	Corneal Dystrophy, Fuchs Endothelial, 4
OMIM:613270	Corneal Dystrophy, Fuchs Endothelial, 6
OMIM:613280	Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis
OMIM:613282	Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
OMIM:613285	Deafness, Autosomal Recessive 25
OMIM:613286	Cardiomyopathy, Dilated, 1ff
OMIM:613287	Charcot-Marie-Tooth Disease, Axonal, Type 2n
OMIM:613291	Bile Acid Malabsorption, Primary
OMIM:613307	Deafness, Autosomal Recessive 79
OMIM:613308	Diamond-Blackfan Anemia 9
OMIM:613309	Diamond-Blackfan Anemia 10
OMIM:613310	Exudative Vitreoretinopathy 5
OMIM:613312	Hypophosphatemic Rickets, Autosomal Recessive, 2
OMIM:613313	Hemochromatosis, Type 2b
OMIM:613319	Miyoshi Muscular Dystrophy 3
OMIM:613320	Chondrodysplasia, Megarbane-Dagher-Melki Type
OMIM:613325	Rhabdoid Tumor Predisposition Syndrome 2
OMIM:613327	Lipodystrophy, Congenital Generalized, Type 4
OMIM:613328	Roifman-Chitayat Syndrome
OMIM:613329	Plasminogen Activator Inhibitor-1 Deficiency
OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
OMIM:613339	Epilepsy, Hot Water, 1
OMIM:613341	Leber Congenital Amaurosis 14
OMIM:613342	Mseleni Joint Disease
OMIM:613345	Hypokalemic Periodic Paralysis, Type 2
OMIM:613347	Pancreatic Cancer, Susceptibility To, 2
OMIM:613353	Mononeuropathy Of The Median Nerve, Mild
OMIM:613355	Chromosome 17q23.1-Q23.2 Deletion Syndrome
OMIM:613364	Spastic Paraplegia 41, Autosomal Dominant
OMIM:613370	Maturity-Onset Diabetes Of The Young, Type 10
OMIM:613371	Spinocerebellar Ataxia 30
OMIM:613375	Maturity-Onset Diabetes Of The Young, Type 11
OMIM:613376	Neuronopathy, Distal Hereditary Motor, Type Iic
OMIM:613382	Brachydactyly, Type E2
OMIM:613385	Autoimmune Disease, Syndromic Multisystem
OMIM:613387	Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
OMIM:613388	Fanconi Renotubular Syndrome 2
OMIM:613390	Fanconi Anemia, Complementation Group O
OMIM:613391	Deafness, Autosomal Recessive 84a
OMIM:613398	Warsaw Breakage Syndrome
OMIM:613402	Epileptic Encephalopathy, Early Infantile, 10
OMIM:613404	Arthrogryposis, Renal Dysfunction, And Cholestasis 2
OMIM:613406	Chromosome 15q24 Deletion Syndrome
OMIM:613411	Oguchi Disease 2
OMIM:613412	Esophagitis, Eosinophilic, 2
OMIM:613418	Bone Mineral Density Quantitative Trait Locus 15
OMIM:613424	Cardiomyopathy, Dilated, 1r
OMIM:613426	Cardiomyopathy, Dilated, 1s
OMIM:613428	Retinitis Pigmentosa 54
OMIM:613435	Amyotrophic Lateral Sclerosis 12
OMIM:613443	Mental Retardation, Autosomal Dominant 20
OMIM:613451	Frontonasal Dysplasia 2
OMIM:613453	Deafness, Autosomal Recessive 91
OMIM:613454	Rett Syndrome, Congenital Variant
OMIM:613456	Frontonasal Dysplasia 3
OMIM:613457	Chromosome 14q11-Q22 Deletion Syndrome
OMIM:613458	Chromosome 16p13.3 Duplication Syndrome
OMIM:613464	Retinitis Pigmentosa 51
OMIM:613470	Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
OMIM:613471	Reynolds Syndrome
OMIM:613477	Epileptic Encephalopathy, Early Infantile, 5
OMIM:613480	Lymphedema, Hereditary, Ic
OMIM:613485	Long Qt Syndrome 13
OMIM:613488	Myxoid Liposarcoma
OMIM:613489	Congenital Disorder Of Glycosylation, Type Iij
OMIM:613490	Alpha-1-Antitrypsin Deficiency
OMIM:613493	Immunodeficiency, Common Variable, 3
OMIM:613494	Immunodeficiency, Common Variable, 4
OMIM:613495	Immunodeficiency, Common Variable, 5
OMIM:613496	Immunodeficiency, Common Variable, 6
OMIM:613500	Agammaglobulinemia 2, Autosomal Recessive
OMIM:613501	Agammaglobulinemia 3, Autosomal Recessive
OMIM:613502	Agammaglobulinemia 4, Autosomal Recessive
OMIM:613506	Agammaglobulinemia 5, Autosomal Dominant
OMIM:613507	Glycogen Storage Disease Xv
OMIM:613509	Chromosome 4q21 Deletion Syndrome
OMIM:613517	Microphthalmia, Isolated 6
OMIM:613530	Muscular Dystrophy, Limb-Girdle, Type 1h
OMIM:613533	Chromosome 17q21.31 Duplication Syndrome
OMIM:613544	Chromosome 6q11-Q14 Deletion Syndrome
OMIM:613546	Aromatase Deficiency
OMIM:613550	Nephronophthisis 11
OMIM:613554	Von Willebrand Disease, Type 2
OMIM:613558	Deafness, Autosomal Dominant 51
OMIM:613559	Combined Oxidative Phosphorylation Deficiency 7
OMIM:613561	Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
OMIM:613563	Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
OMIM:613571	Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
OMIM:613573	Ectodermal Dysplasia-Syndactyly Syndrome 1
OMIM:613575	Retinitis Pigmentosa 55
OMIM:613576	Ectodermal Dysplasia-Syndactyly Syndrome 2
OMIM:613581	Retinitis Pigmentosa 56
OMIM:613582	Retinitis Pigmentosa 57
OMIM:613587	Occult Macular Dystrophy
OMIM:613603	Chromosome 4q32.1-Q32.2 Triplication Syndrome
OMIM:613604	Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
OMIM:613606	Forsythe-Wakeling Syndrome
OMIM:613608	Epilepsy, Familial Adult Myoclonic, 3
OMIM:613610	Cranioectodermal Dysplasia 2
OMIM:613611	Choanal Atresia And Lymphedema
OMIM:613612	Congenital Disorder Of Glycosylation, Type Iii
OMIM:613615	Senior-Loken Syndrome 7
OMIM:613616	Hyperoxaluria, Primary, Type Iii
OMIM:613617	Retinitis Pigmentosa 58
OMIM:613618	Chromosome 17q23.1-Q23.2 Duplication Syndrome
OMIM:613623	Agenesis Of The Corpus Callosum And Congenital Lymphedema
OMIM:613625	Factor V And Factor Viii, Combined Deficiency Of, 2
OMIM:613627	Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
OMIM:613628	Odontoid Hypoplasia
OMIM:613630	Cocoon Syndrome
OMIM:613640	Neuropathy, Hereditary Sensory And Autonomic, Type Ic
OMIM:613641	Charcot-Marie-Tooth Disease, Recessive Intermediate B
OMIM:613642	Cardiomyopathy, Dilated, 1gg
OMIM:613646	Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
OMIM:613647	Spastic Paraplegia 48, Autosomal Recessive
OMIM:613652	C1q Deficiency
OMIM:613657	D-2-Hydroxyglutaric Aciduria 2
OMIM:613658	Rajab Syndrome
OMIM:613659	Gastric Cancer
OMIM:613660	Cone-Rod Dystrophy 15
OMIM:613661	Congenital Disorder Of Glycosylation, Type Ip
OMIM:613662	Mitochondrial Dna Depletion Syndrome 4b (Mngie Type)
OMIM:613668	Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
OMIM:613670	Mental Retardation With Language Impairment And Autistic Features
OMIM:613671	Mental Retardation, Anterior Maxillary Protrusion, And Strabismus
OMIM:613672	Spastic Ataxia 4, Autosomal Recessive
OMIM:613673	Anemia, Congenital Dyserythropoietic, Type Iv
OMIM:613674	Vesicoureteral Reflux 3
OMIM:613675	Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb
OMIM:613676	Seckel Syndrome 4
OMIM:613677	Hyperaldosteronism, Familial, Type Iii
OMIM:613678	Brachyolmia Type 2
OMIM:613679	Prothrombin Deficiency, Congenital
OMIM:613680	Beaulieu-Boycott-Innes Syndrome
OMIM:613681	Chromosome 2q31.1 Duplication Syndrome
OMIM:613684	Rubinstein-Taybi Syndrome 2
OMIM:613686	Spondylocostal Dysostosis 4, Autosomal Recessive
OMIM:613688	Long Qt Syndrome 2
OMIM:613689	Mammary-Digital-Nail Syndrome
OMIM:613690	Cardiomyopathy, Familial Hypertrophic, 7
OMIM:613693	Long Qt Syndrome 6
OMIM:613694	Cardiomyopathy, Dilated, 1u
OMIM:613695	Long Qt Syndrome 5
OMIM:613697	Cardiomyopathy, Dilated, 1v
OMIM:613702	Klippel-Feil Syndrome 3, Autosomal Dominant
OMIM:613703	Microphthalmia, Isolated, With Coloboma 6
OMIM:613704	Microphthalmia, Isolated 7
OMIM:613705	Orofacial Cleft 10
OMIM:613706	Noonan Syndrome 7
OMIM:613707	Leopard Syndrome 3
OMIM:613708	Neuropathy, Hereditary Sensory, Type Id
OMIM:613710	Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
OMIM:613717	Treacher Collins Syndrome 2
OMIM:613718	Deafness, Autosomal Recessive 74
OMIM:613720	Epileptic Encephalopathy, Early Infantile, 7
OMIM:613721	Epileptic Encephalopathy, Early Infantile, 11
OMIM:613722	Epileptic Encephalopathy, Early Infantile, 12
OMIM:613723	Muscular Dystrophy, Limb-Girdle, Type 2q
OMIM:613724	Leukoencephalopathy With Dystonia And Motor Neuropathy
OMIM:613728	Spinocerebellar Ataxia, Autosomal Recessive 10
OMIM:613729	Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb
OMIM:613730	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
OMIM:613731	Retinitis Pigmentosa 4
OMIM:613735	Chromosome 1p32-P31 Deletion Syndrome
OMIM:613736	Acne Inversa, Familial, 2
OMIM:613737	Acne Inversa, Familial, 3
OMIM:613740	Cardiomyopathy, Dilated, 1t
OMIM:613743	Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
OMIM:613744	Spastic Paraplegia 51, Autosomal Recessive
OMIM:613750	Retinitis Pigmentosa 27
OMIM:613751	Heterotaxy, Visceral, 4, Autosomal
OMIM:613752	Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
OMIM:613756	Retinitis Pigmentosa 49
OMIM:613757	Macular Degeneration, Age-Related, 6
OMIM:613758	Retinitis Pigmentosa 47
OMIM:613759	Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
OMIM:613762	46,Xy Sex Reversal 6
OMIM:613763	Cataract 16, Multiple Types
OMIM:613765	Cardiomyopathy, Familial Hypertrophic, 9
OMIM:613767	Retinitis Pigmentosa 45
OMIM:613769	Retinitis Pigmentosa 44
OMIM:613776	Chromosome 17p13.1 Deletion Syndrome
OMIM:613779	Complement Component 3 Deficiency, Autosomal Recessive
OMIM:613780	Aortic Aneurysm, Familial Thoracic 7
OMIM:613783	Complement Component C1s Deficiency
OMIM:613789	Complement Component 8 Deficiency, Type Ii
OMIM:613790	Complement Component 8 Deficiency, Type I
OMIM:613792	Chromosome 3pter-P25 Deletion Syndrome
OMIM:613794	Retinitis Pigmentosa 20
OMIM:613795	Loeys-Dietz Syndrome, Type 3
OMIM:613796	Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive
OMIM:613800	Meier-Gorlin Syndrome 2
OMIM:613801	Retinitis Pigmentosa 40
OMIM:613803	Meier-Gorlin Syndrome 3
OMIM:613804	Meier-Gorlin Syndrome 4
OMIM:613805	Meier-Gorlin Syndrome 5
OMIM:613807	Ciliary Dyskinesia, Primary, 14
OMIM:613808	Ciliary Dyskinesia, Primary, 15
OMIM:613809	Retinitis Pigmentosa 39
OMIM:613810	Retinitis Pigmentosa 43
OMIM:613811	Pontocerebellar Hypoplasia, Type 2d
OMIM:613812	Bile Acid Synthesis Defect, Congenital, 3
OMIM:613818	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
OMIM:613819	Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
OMIM:613820	Nephronophthisis 12
OMIM:613823	Seckel Syndrome 5
OMIM:613824	Nephronophthisis 9
OMIM:613825	Complement Component 9 Deficiency
OMIM:613826	Leber Congenital Amaurosis 6
OMIM:613827	Retinitis Pigmentosa 48
OMIM:613829	Leber Congenital Amaurosis 7
OMIM:613830	Night Blindness, Congenital Stationary, Type 1d
OMIM:613832	Epilepsy, Progressive Myoclonic 5
OMIM:613834	Multisystemic Smooth Muscle Dysfunction Syndrome
OMIM:613835	Leber Congenital Amaurosis 8
OMIM:613837	Leber Congenital Amaurosis 11
OMIM:613838	Cardiomyopathy, Familial Hypertrophic, 16
OMIM:613839	Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
OMIM:613843	Leber Congenital Amaurosis 15
OMIM:613845	Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
OMIM:613848	Osteogenesis Imperfecta, Type X
OMIM:613849	Osteogenesis Imperfecta, Type Xii
OMIM:613853	Transposition Of The Great Arteries, Dextro-Looped 2
OMIM:613854	Transposition Of The Great Arteries, Dextro-Looped 3
OMIM:613855	Episodic Ataxia, Type 5
OMIM:613856	Achromatopsia 4
OMIM:613857	Orofacial Cleft 13
OMIM:613860	Immunodeficiency Due To Ficolin 3 Deficiency
OMIM:613861	Retinitis Pigmentosa 59
OMIM:613862	Retinitis Pigmentosa 38
OMIM:613863	Generalized Epilepsy With Febrile Seizures Plus, Type 7
OMIM:613865	Deafness, Autosomal Recessive 61
OMIM:613869	Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
OMIM:613870	Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
OMIM:613873	Cardiomyopathy, Familial Hypertrophic, 17
OMIM:613874	Cardiomyopathy, Familial Hypertrophic, 18
OMIM:613875	Cardiomyopathy, Familial Hypertrophic, 19
OMIM:613876	Cardiomyopathy, Familial Hypertrophic, 20
OMIM:613877	Lipodystrophy, Familial Partial, Type 4
OMIM:613881	Cardiomyopathy, Dilated, 1hh
OMIM:613882	Hypomagnesemia 6, Renal
OMIM:613884	Chromosome 13q14 Deletion Syndrome
OMIM:613885	Meckel Syndrome, Type 8
OMIM:613886	Obesity, Hyperphagia, And Developmental Delay
OMIM:613887	Cataract 36
OMIM:613908	Spinocerebellar Ataxia 35
OMIM:613912	Complement Factor D Deficiency
OMIM:613913	Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
OMIM:613916	Deafness, Autosomal Recessive 89
OMIM:613925	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a
OMIM:613926	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation
OMIM:613930	Alopecia-Mental Retardation Syndrome 3
OMIM:613933	Acetyl-Coa Carboxylase Deficiency
OMIM:613938	Parasomnia, Sleepwalking Type
OMIM:613943	Ichthyosis, Congenital, Autosomal Recessive 8
OMIM:613944	Iga Nephropathy, Susceptibility To, 2
OMIM:613950	Schizophrenia 15
OMIM:613951	Fanconi Anemia, Complementation Group P
OMIM:613953	Candidiasis, Familial, 5
OMIM:613954	Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia
OMIM:613955	Amyloidosis, Primary Localized Cutaneous, 2
OMIM:613956	Candidiasis, Familial, 6
OMIM:613957	Spermatogenic Failure 8
OMIM:613958	Spermatogenic Failure 9
OMIM:613960	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii
OMIM:613969	Myopia 19, Autosomal Dominant
OMIM:613970	Mental Retardation, Autosomal Dominant 6
OMIM:613971	Moved To 245570
OMIM:613977	Cyanosis, Transient Neonatal
OMIM:613978	Hemoglobin H Disease
OMIM:613980	Atrial Fibrillation, Familial, 9
OMIM:613981	Hypotrichosis 3
OMIM:613982	Osteogenesis Imperfecta, Type Vi
OMIM:613983	Retinitis Pigmentosa 60
OMIM:613985	Beta-Thalassemia
OMIM:613986	Pituitary Hormone Deficiency, Combined, 6
OMIM:613987	Dyskeratosis Congenita, Autosomal Recessive, 2
OMIM:613988	Dyskeratosis Congenita, Autosomal Recessive, 3
OMIM:613989	Dyskeratosis Congenita, Autosomal Dominant, 2
OMIM:613990	Dyskeratosis Congenita, Autosomal Dominant, 3
OMIM:614008	Nestor-Guillermo Progeria Syndrome
OMIM:614009	Bleeding Disorder, Platelet-Type, 13, Susceptibility To
OMIM:614017	Ciliary Dyskinesia, Primary, 16
OMIM:614018	Epilepsy, Progressive Myoclonic 6
OMIM:614019	Lissencephaly 4
OMIM:614020	Mental Retardation, Autosomal Recessive 14
OMIM:614021	Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
OMIM:614022	Atrial Fibrillation, Familial, 10
OMIM:614023	Phosphoserine Phosphatase Deficiency
OMIM:614025	Hepatic Lipase Deficiency
OMIM:614028	Hyperalphalipoproteinemia 2
OMIM:614033	Hydroxyacyl Glutathione Hydrolase Deficiency
OMIM:614034	Heme Oxygenase 1 Deficiency
OMIM:614035	Deafness, Autosomal Recessive 29
OMIM:614036	Alpha-2-Macroglobulin Deficiency
OMIM:614037	Leukotriene C4 Synthase Deficiency
OMIM:614038	Lymphedema, Primary, With Myelodysplasia
OMIM:614039	Cortical Dysplasia, Complex, With Other Brain Malformations 1
OMIM:614042	Moyamoya Disease 5
OMIM:614044	Trypsinogen Deficiency
OMIM:614049	Atrial Fibrillation, Familial, 11
OMIM:614050	Atrial Fibrillation, Familial, 12
OMIM:614052	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
OMIM:614053	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
OMIM:614055	Acetyl-Coa Acetyltransferase-2 Deficiency
OMIM:614063	N-Acetylaspartate Deficiency
OMIM:614065	Myopathy, Distal, 4
OMIM:614066	Spastic Paraplegia 47, Autosomal Recessive
OMIM:614067	Spastic Paraplegia 52, Autosomal Recessive
OMIM:614069	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
OMIM:614072	Hermansky-Pudlak Syndrome 3
OMIM:614073	Hermansky-Pudlak Syndrome 4
OMIM:614074	Hermansky-Pudlak Syndrome 5
OMIM:614075	Hermansky-Pudlak Syndrome 6
OMIM:614076	Hermansky-Pudlak Syndrome 7
OMIM:614077	Hermansky-Pudlak Syndrome 8
OMIM:614078	Chondrodysplasia With Joint Dislocations, Gpapp Type
OMIM:614080	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
OMIM:614082	Fanconi Anemia, Complementation Group G
OMIM:614083	Fanconi Anemia, Complementation Group L
OMIM:614087	Fanconi Anemia, Complementation Group M
OMIM:614089	Atrial Septal Defect 3
OMIM:614091	Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
OMIM:614096	Combined Oxidative Phosphorylation Deficiency 8
OMIM:614097	Acatalasemia
OMIM:614098	Keppen-Lubinsky Syndrome
OMIM:614099	Cranioectodermal Dysplasia 3
OMIM:614100	Cutis Laxa, Neonatal, With Marfanoid Phenotype
OMIM:614102	Immunoglobulin Kappa Light Chain Deficiency
OMIM:614103	Lipedema
OMIM:614104	Mental Retardation, Autosomal Dominant 7
OMIM:614111	Pyruvate Dehydrogenase E1-Beta Deficiency
OMIM:614113	Mental Retardation, Autosomal Dominant 2
OMIM:614114	Mosaic Variegated Aneuploidy Syndrome 2
OMIM:614115	Cortical Malformations, Occipital
OMIM:614116	Neuropathy, Hereditary Sensory, Type Ie
OMIM:614120	Hydrolethalus Syndrome 2
OMIM:614129	Perrault Syndrome 3
OMIM:614131	Focal Segmental Glomerulosclerosis 6
OMIM:614132	Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
OMIM:614134	Stickler Syndrome, Type Iv
OMIM:614135	Epiphyseal Dysplasia, Multiple, 6
OMIM:614149	Nail Disorder, Nonsyndromic Congenital, 9
OMIM:614152	Deafness, Autosomal Dominant 64
OMIM:614153	Spinocerebellar Ataxia 36
OMIM:614156	Hyperbiliverdinemia
OMIM:614157	Nail Disorder, Nonsyndromic Congenital, 10
OMIM:614158	Bleeding Disorder, Platelet-Type, 14
OMIM:614160	Muscle Hypertrophy
OMIM:614162	Candidiasis, Familial, 7
OMIM:614164	Glutathione Peroxidase Deficiency
OMIM:614165	Paragangliomas 5
OMIM:614167	Myopia 21, Autosomal Dominant
OMIM:614170	Brittle Cornea Syndrome 2
OMIM:614171	Hermansky-Pudlak Syndrome 9
OMIM:614172	Immunodeficiency 21
OMIM:614173	Joubert Syndrome 13
OMIM:614175	Meckel Syndrome, Type 10
OMIM:614180	Retinitis Pigmentosa 61
OMIM:614181	Retinitis Pigmentosa 62
OMIM:614185	Geleophysic Dysplasia 2
OMIM:614186	Leber Congenital Amaurosis 16
OMIM:614187	Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness
OMIM:614188	Craniosynostosis And Dental Anomalies
OMIM:614190	Pigmented Nodular Adrenocortical Disease, Primary, 3
OMIM:614192	Macrocephaly, Macrosomia, Facial Dysmorphism Syndrome
OMIM:614195	Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
OMIM:614196	Nephrotic Syndrome, Type 6
OMIM:614198	Myasthenic Syndrome, Congenital, Acetazolamide-Responsive
OMIM:614199	Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
OMIM:614200	Bleeding Disorder, Platelet-Type, 9
OMIM:614201	Bleeding Disorder, Platelet-Type, 11
OMIM:614202	Mental Retardation, Autosomal Recessive 15
OMIM:614203	Parkinson Disease 17
OMIM:614204	Pustular Psoriasis, Generalized
OMIM:614205	Three M Syndrome 3
OMIM:614207	Hyperphosphatasia With Mental Retardation Syndrome 3
OMIM:614209	Meckel Syndrome, Type 9
OMIM:614211	Deafness, Autosomal Dominant 33
OMIM:614212	Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
OMIM:614213	Neuropathy, Hereditary Sensory, Type Iic
OMIM:614219	Adams-Oliver Syndrome 2
OMIM:614222	Warburg Micro Syndrome 3
OMIM:614224	Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
OMIM:614225	Warburg Micro Syndrome 2
OMIM:614226	Holoprosencephaly 11
OMIM:614227	Hyperuricemic Nephropathy, Familial Juvenile, 3
OMIM:614228	Charcot-Marie-Tooth Disease, Axonal, Type 2o
OMIM:614229	Spinocerebellar Ataxia, Autosomal Recessive 11
OMIM:614230	Chromosome 8q21.11 Deletion Syndrome
OMIM:614231	Microcephaly, Epilepsy, And Diabetes Syndrome
OMIM:614249	Mental Retardation, Autosomal Recessive 18
OMIM:614250	Narcolepsy 7
OMIM:614251	Parkinson Disease 18
OMIM:614253	Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome
OMIM:614254	Mental Retardation, Autosomal Dominant 8
OMIM:614255	Mental Retardation, Autosomal Dominant 9
OMIM:614256	Mental Retardation, Autosomal Dominant 10
OMIM:614257	Mental Retardation, Autosomal Dominant 11
OMIM:614261	Microcephaly-Capillary Malformation Syndrome
OMIM:614262	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
OMIM:614265	Combined Malonic And Methylmalonic Aciduria
OMIM:614266	Barrett Esophagus
OMIM:614279	46,Xy Sex Reversal 8
OMIM:614280	Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
OMIM:614284	Stickler Syndrome, Type V
OMIM:614286	Myelodysplastic Syndrome
OMIM:614290	Tetrasomy 18p
OMIM:614292	Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614293	Hydatidiform Mole, Recurrent, 2
OMIM:614296	Wolfram-Like Syndrome, Autosomal Dominant
OMIM:614298	Neurodegeneration With Brain Iron Accumulation 4
OMIM:614299	Multiple Mitochondrial Dysfunctions Syndrome 2
OMIM:614300	Hypermethioninemia Due To Adenosine Kinase Deficiency
OMIM:614302	Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
OMIM:614303	Edict Syndrome
OMIM:614305	Sclerosteosis 2
OMIM:614306	Cognitive Impairment With Or Without Cerebellar Ataxia
OMIM:614307	Alpha-Methylacyl-Coa Racemase Deficiency
OMIM:614321	Myopathy, Distal, Tateyama Type
OMIM:614322	Spinocerebellar Ataxia, Autosomal Recessive 12
OMIM:614323	Nevoid Hypermelanosis, Linear And Whorled
OMIM:614324	Ovarian Dysgenesis 3
OMIM:614325	Pitt-Hopkins-Like Syndrome 2
OMIM:614326	Feingold Syndrome 2
OMIM:614327	Tumor Predisposition Syndrome
OMIM:614328	Inflammatory Skin And Bowel Disease, Neonatal
OMIM:614329	Mental Retardation, Autosomal Recessive 31
OMIM:614331	Colorectal Cancer, Hereditary Nonpolyposis, Type 6
OMIM:614335	Arthrogryposis, Distal, Type 1b
OMIM:614337	Colorectal Cancer, Hereditary Nonpolyposis, Type 4
OMIM:614338	Pancreatic Lipase Deficiency
OMIM:614340	Mental Retardation, Autosomal Recessive 27
OMIM:614350	Colorectal Cancer, Hereditary Nonpolyposis, Type 5
OMIM:614369	Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
OMIM:614370	Surfactant Metabolism Dysfunction, Pulmonary, 5
OMIM:614371	Dengue Virus, Susceptibility To
OMIM:614373	Amyotrophic Lateral Sclerosis 16, Juvenile
OMIM:614376	Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
OMIM:614377	Nephronophthisis 13
OMIM:614378	Cranioectodermal Dysplasia 4
OMIM:614380	Complement Component 4a Deficiency
OMIM:614381	Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
OMIM:614385	Colorectal Cancer, Hereditary Nonpolyposis, Type 7
OMIM:614388	Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission
OMIM:614389	Pregnancy Loss, Recurrent, Susceptibility To, 1
OMIM:614390	Pregnancy Loss, Recurrent, Susceptibility To, 2
OMIM:614391	Pregnancy Loss, Recurrent, Susceptibility To, 3
OMIM:614399	Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
OMIM:614402	Microphthalmia, Syndromic 11
OMIM:614407	Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
OMIM:614408	Myopathy, Centronuclear, 3
OMIM:614409	Spastic Paraplegia 46, Autosomal Recessive
OMIM:614411	Glycerol Quantitative Trait Locus
OMIM:614414	Deafness, Autosomal Recessive 96
OMIM:614415	Chilblain Lupus 2
OMIM:614416	Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
OMIM:614417	Epilepsy, Familial Temporal Lobe, 5
OMIM:614418	Febrile Seizures, Familial, 11
OMIM:614420	Systemic Lupus Erythematosus 16
OMIM:614421	Moved To 277590
OMIM:614422	Cataract 37
OMIM:614424	Joubert Syndrome 14
OMIM:614429	Ventricular Septal Defect 1
OMIM:614430	Atrioventricular Septal Defect 4
OMIM:614431	Ventricular Septal Defect 2
OMIM:614432	Ventricular Septal Defect 3
OMIM:614433	Atrial Septal Defect 8
OMIM:614434	Cutis Laxa, Autosomal Dominant 2
OMIM:614435	Hypoplastic Left Heart Syndrome 2
OMIM:614436	Charcot-Marie-Tooth Disease, Axonal, Type 2p
OMIM:614437	Cutis Laxa, Autosomal Recessive, Type Ib
OMIM:614438	Cutis Laxa, Autosomal Recessive, Type Iiib
OMIM:614441	Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
OMIM:614450	Hypothyroidism, Congenital, Nongoitrous, 6
OMIM:614455	Charcot-Marie-Tooth Disease, Dominant Intermediate E
OMIM:614456	Melanoma, Cutaneous Malignant, Susceptibility To, 8
OMIM:614457	Ichthyosis, Spastic Quadriplegia, And Mental Retardation
OMIM:614458	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
OMIM:614462	Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency
OMIM:614464	Joubert Syndrome 15
OMIM:614465	Joubert Syndrome 16
OMIM:614468	Familial Cold Autoinflammatory Syndrome 3
OMIM:614470	Autoimmune Lymphoproliferative Syndrome, Type Iv
OMIM:614473	Arterial Calcification, Generalized, Of Infancy, 2
OMIM:614474	Atrioventricular Septal Defect 5
OMIM:614475	Atrial Septal Defect 9
OMIM:614480	Hypertriglyceridemia, Transient Infantile
OMIM:614482	Congenital Cataracts, Hearing Loss, And Neurodegeneration
OMIM:614483	Porencephaly 2
OMIM:614485	Trigonocephaly 2
OMIM:614486	Thrombophilia Due To Thrombomodulin Defect
OMIM:614487	Spastic Ataxia 5, Autosomal Recessive
OMIM:614491	Pseudohypoaldosteronism, Type Iib
OMIM:614492	Pseudohypoaldosteronism, Type Iic
OMIM:614493	Wiskott-Aldrich Syndrome 2
OMIM:614494	Retinitis Pigmentosa 63
OMIM:614495	Pseudohypoaldosteronism, Type Iid
OMIM:614496	Pseudohypoaldosteronism, Type Iie
OMIM:614497	Microphthalmia, Isolated, With Coloboma 7
OMIM:614498	Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
OMIM:614499	Mental Retardation, Autosomal Recessive 34
OMIM:614500	Cone-Rod Dystrophy 16
OMIM:614501	Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
OMIM:614504	Usher Syndrome, Type Iiib
OMIM:614507	Congenital Disorder Of Glycosylation, Type Ir
OMIM:614508	Mirror Movements 2
OMIM:614514	Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
OMIM:614520	Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
OMIM:614521	Thrombocythemia 3
OMIM:614524	Fibrochondrogenesis 2
OMIM:614526	Chromosome 17q12 Duplication Syndrome
OMIM:614527	Chromosome 17q12 Deletion Syndrome
OMIM:614540	Moved To 213600
OMIM:614541	Chromosome 16q22 Deletion Syndrome
OMIM:614557	Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
OMIM:614558	Epileptic Encephalopathy, Early Infantile, 13
OMIM:614559	Infantile Cerebellar-Retinal Degeneration
OMIM:614561	Leukoencephalopathy, Brain Calcifications, And Cysts
OMIM:614562	Mental Retardation, Autosomal Dominant 12
OMIM:614563	Mental Retardation, Autosomal Dominant 13
OMIM:614564	Cutaneous Telangiectasia And Cancer Syndrome, Familial
OMIM:614565	Night Blindness, Congenital Stationary, Type 1e
OMIM:614569	Multiple Enchondromatosis, Maffucci Type
OMIM:614575	Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
OMIM:614576	Congenital Disorder Of Glycosylation, Type Iil
OMIM:614582	Combined Oxidative Phosphorylation Deficiency 9
OMIM:614583	Baraitser-Winter Syndrome 2
OMIM:614588	Dystonia 21
OMIM:614592	Bent Bone Dysplasia Syndrome
OMIM:614594	Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques
OMIM:614595	Preeclampsia/Eclampsia 5
OMIM:614602	Trichohepatoenteric Syndrome 2
OMIM:614607	Mental Retardation, Autosomal Dominant 14
OMIM:614608	Mental Retardation, Autosomal Dominant 15
OMIM:614609	Mental Retardation, Autosomal Dominant 16
OMIM:614613	Acrodysostosis 2 With Or Without Hormone Resistance
OMIM:614614	Deafness, Autosomal Dominant 4b
OMIM:614615	Joubert Syndrome 17
OMIM:614616	Diarrhea 6
OMIM:614617	Deafness, Autosomal Recessive 86
OMIM:614618	Hyperekplexia 3
OMIM:614619	Hyperekplexia 2
OMIM:614621	Uv-Sensitive Syndrome 2
OMIM:614622	Keratoconus 5
OMIM:614623	Keratoconus 6
OMIM:614628	Keratoconus 8
OMIM:614629	Keratoconus 7
OMIM:614640	Uv-Sensitive Syndrome 3
OMIM:614643	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
OMIM:614650	Coenzyme Q10 Deficiency, Primary, 6
OMIM:614651	Coenzyme Q10 Deficiency, Primary, 2
OMIM:614652	Coenzyme Q10 Deficiency, Primary, 3
OMIM:614653	Neuropathy, Hereditary Sensory And Autonomic, Type Vi
OMIM:614654	Coenzyme Q10 Deficiency, Primary, 5
OMIM:614662	Cortisone Reductase Deficiency 2
OMIM:614665	Meconium Ileus
OMIM:614669	Auriculocondylar Syndrome 2
OMIM:614672	Cardiomyopathy, Dilated, 2b
OMIM:614673	Microcephaly 8, Primary, Autosomal Recessive
OMIM:614674	Periodic Fever, Menstrual Cycle-Dependent
OMIM:614675	Bone Marrow Failure Syndrome 1
OMIM:614676	Cardiomyopathy, Familial Hypertrophic, 21
OMIM:614678	Pontocerebellar Hypoplasia, Type 1b
OMIM:614679	Ciliary Dyskinesia, Primary, 17
OMIM:614684	Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
OMIM:614688	Pontine Tegmental Cap Dysplasia
OMIM:614691	Cataract 38
OMIM:614696	Amyotrophic Lateral Sclerosis 17
OMIM:614699	Immunodeficiency, Common Variable, 7
OMIM:614700	Immunodeficiency, Common Variable, 8, With Autoimmunity
OMIM:614701	Cornelia De Lange Syndrome 4
OMIM:614702	Combined Oxidative Phosphorylation Deficiency 10
OMIM:614706	Ceroid Lipofuscinosis, Neuronal, 11
OMIM:614707	Brown-Vialetto-Van Laere Syndrome 2
OMIM:614714	Porokeratosis 7, Disseminated Superficial Actinic Type
OMIM:614723	Adenine Phosphoribosyltransferase Deficiency
OMIM:614727	Congenital Disorder Of Glycosylation, Type Iik
OMIM:614728	Seckel Syndrome 6
OMIM:614732	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
OMIM:614736	Glucocorticoid Deficiency 4
OMIM:614739	3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
OMIM:614741	Mitochondrial Pyruvate Carrier Deficiency
OMIM:614742	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
OMIM:614743	Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
OMIM:614744	Facial Paresis, Hereditary Congenital, 3
OMIM:614748	Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
OMIM:614749	Hyperphosphatasia With Mental Retardation Syndrome 2
OMIM:614750	Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
OMIM:614751	Neuronopathy, Distal Hereditary Motor, Type Vb
OMIM:614753	Sotos Syndrome 2
OMIM:614756	Cerebellar Ataxia, Nonprogressive, With Mental Retardation
OMIM:614779	Heterotaxy, Visceral, 6, Autosomal
OMIM:614782	Tremor, Hereditary Essential, 4
OMIM:614800	Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
OMIM:614807	Myopathy, Centronuclear, 4
OMIM:614808	Amyotrophic Lateral Sclerosis 18
OMIM:614809	Cfhr5 Deficiency
OMIM:614813	Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
OMIM:614814	Adams-Oliver Syndrome 3
OMIM:614815	Joubert Syndrome 18
OMIM:614816	Loeys-Dietz Syndrome, Type 4
OMIM:614817	Interstitial Nephritis, Karyomegalic
OMIM:614819	Weill-Marchesani Syndrome 3
OMIM:614820	Alternating Hemiplegia Of Childhood 2
OMIM:614822	Spermatogenic Failure 10
OMIM:614823	Aortic Valve Disease 2
OMIM:614826	Nystagmus 7, Congenital, Autosomal Dominant
OMIM:614830	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
OMIM:614831	Spinocerebellar Ataxia, Autosomal Recessive 13
OMIM:614832	Amelogenesis Imperfecta, Hypomaturation Type, Iia4
OMIM:614833	Polymicrogyria With Seizures
OMIM:614837	Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
OMIM:614838	Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
OMIM:614839	Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
OMIM:614840	Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
OMIM:614841	Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
OMIM:614842	Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
OMIM:614844	Nephronophthisis 14
OMIM:614845	Nephronophthisis 15
OMIM:614847	Epilepsy, Idiopathic Generalized, Susceptibility To, 12
OMIM:614850	Herpes Simplex Encephalitis, Susceptibility To, 4
OMIM:614851	Seckel Syndrome 7
OMIM:614852	Microcephaly 9, Primary, Autosomal Recessive
OMIM:614856	Osteogenesis Imperfecta, Type Xiii
OMIM:614857	Methylmalonic Aciduria And Homocystinuria, Cblj Type
OMIM:614858	Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
OMIM:614859	Peroxisome Biogenesis Disorder 3a (Zellweger)
OMIM:614860	Dystonia 23
OMIM:614861	Deafness, Autosomal Recessive 98
OMIM:614862	Peroxisome Biogenesis Disorder 4a (Zellweger)
OMIM:614863	Peroxisome Biogenesis Disorder 4b
OMIM:614866	Peroxisome Biogenesis Disorder 5a (Zellweger)
OMIM:614867	Peroxisome Biogenesis Disorder 5b
OMIM:614868	T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
OMIM:614869	Usher Syndrome, Type Ij
OMIM:614870	Peroxisome Biogenesis Disorder 6a (Zellweger)
OMIM:614871	Peroxisome Biogenesis Disorder 6b
OMIM:614872	Peroxisome Biogenesis Disorder 7a (Zellweger)
OMIM:614873	Peroxisome Biogenesis Disorder 7b
OMIM:614874	Ciliary Dyskinesia, Primary, 18
OMIM:614876	Peroxisome Biogenesis Disorder 8a (Zellweger)
OMIM:614877	Peroxisome Biogenesis Disorder 8b
OMIM:614878	Autoinflammation, Antibody Deficiency, And Immune Dysregulation, Plcg2-Associated
OMIM:614879	Peroxisome Biogenesis Disorder 9b
OMIM:614880	Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
OMIM:614881	Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
OMIM:614882	Peroxisome Biogenesis Disorder 10a (Zellweger)
OMIM:614883	Peroxisome Biogenesis Disorder 11a (Zellweger)
OMIM:614885	Peroxisome Biogenesis Disorder 11b
OMIM:614886	Peroxisome Biogenesis Disorder 12a (Zellweger)
OMIM:614887	Peroxisome Biogenesis Disorder 13a (Zellweger)
OMIM:614893	Cd11c-Positive/Cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant
OMIM:614894	Monocyte And Dendritic Cell Deficiency, Autosomal Recessive
OMIM:614895	Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
OMIM:614896	Sinoatrial Node Dysfunction And Deafness
OMIM:614897	Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
OMIM:614898	Spastic Paraplegia 53, Autosomal Recessive
OMIM:614899	Deafness, Autosomal Recessive 93
OMIM:614900	Diamond-Blackfan Anemia 11
OMIM:614915	Lethal Congenital Contracture Syndrome 4
OMIM:614916	Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
OMIM:614920	Peroxisome Biogenesis Disorder 14b
OMIM:614921	Congenital Disorder Of Glycosylation, Type It
OMIM:614922	Combined Oxidative Phosphorylation Deficiency 11
OMIM:614923	Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency
OMIM:614924	Combined Oxidative Phosphorylation Deficiency 12
OMIM:614926	Perrault Syndrome 2
OMIM:614927	Ectodermal Dysplasia 5, Hair/Nail Type
OMIM:614928	Ectodermal Dysplasia 6, Hair/Nail Type
OMIM:614929	Ectodermal Dysplasia 7, Hair/Nail Type
OMIM:614931	Ectodermal Dysplasia 9, Hair/Nail Type
OMIM:614932	Combined Oxidative Phosphorylation Deficiency 13
OMIM:614934	Deafness, Autosomal Recessive 70
OMIM:614935	Ciliary Dyskinesia, Primary, 19
OMIM:614936	Palmoplantar Keratoderma, Punctate Type Ib
OMIM:614937	Myoclonus, Familial Cortical
OMIM:614940	Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
OMIM:614941	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
OMIM:614944	Deafness, Autosomal Recessive 84b
OMIM:614945	Deafness, Autosomal Recessive 18b
OMIM:614946	Combined Oxidative Phosphorylation Deficiency 14
OMIM:614947	Combined Oxidative Phosphorylation Deficiency 15
OMIM:614959	Epileptic Encephalopathy, Early Infantile, 14
OMIM:614961	Pontocerebellar Hypoplasia, Type 8
OMIM:614962	Leptin Deficiency
OMIM:614963	Leptin Receptor Deficiency
OMIM:614969	Pontocerebellar Hypoplasia, Type 7
OMIM:614970	Joubert Syndrome 20
OMIM:614972	Cholestasis, Intrahepatic, Of Pregnancy 3
OMIM:614974	Focal Facial Dermal Dysplasia 4
OMIM:614976	Carpenter Syndrome 2
OMIM:614980	Congenital Heart Defects, Multiple Types, 2
OMIM:614990	Usher Syndrome, Type Ik
OMIM:615005	Epilepsy, Nocturnal Frontal Lobe, 5
OMIM:615006	Epileptic Encephalopathy, Early Infantile, 15
OMIM:615007	Basal Ganglia Calcification, Idiopathic, 4
OMIM:615008	Nephrotic Syndrome, Type 7
OMIM:615010	Aicardi-Goutieres Syndrome 6
OMIM:615023	Ichthyosis, Congenital, Autosomal Recessive 9
OMIM:615024	Ichthyosis, Congenital, Autosomal Recessive 10
OMIM:615028	Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
OMIM:615030	Spastic Paraplegia 56, Autosomal Recessive
OMIM:615031	Spastic Paraplegia 49, Autosomal Recessive
OMIM:615033	Spastic Paraplegia 54, Autosomal Recessive
OMIM:615034	Dystonia 24
OMIM:615035	Spastic Paraplegia 55, Autosomal Recessive
OMIM:615040	Episodic Pain Syndrome, Familial, 1
OMIM:615041	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
OMIM:615042	Congenital Disorder Of Glycosylation, Type Iu
OMIM:615043	Spastic Paraplegia 43, Autosomal Recessive
OMIM:615048	Spinal Muscular Atrophy, Jokela Type
OMIM:615057	Blepharophimosis-Ptosis-Intellectual Disability Syndrome
OMIM:615058	Night Blindness, Congenital Stationary, Type 1f
OMIM:615059	Hypotrichosis 11
OMIM:615065	Arthrogryposis, Distal, Type 5d
OMIM:615067	Ciliary Dyskinesia, Primary, 20
OMIM:615071	Alazami Syndrome
OMIM:615072	Brachydactyly, Type A1, C
OMIM:615073	Dystonia 25
OMIM:615081	Spermatogenic Failure 11
OMIM:615082	C3hex, Ability To Smell
OMIM:615083	Colorectal Cancer, Susceptibility To, 12
OMIM:615084	Mitochondrial Dna Depletion Syndrome 11
OMIM:615085	Osteopetrosis, Autosomal Recessive 8
OMIM:615087	Moved To 613091
OMIM:615092	Left Ventricular Noncompaction 7
OMIM:615095	Microcephaly 10, Primary, Autosomal Recessive
OMIM:615102	Tyshchenko Syndrome
OMIM:615112	Urofacial Syndrome 2
OMIM:615113	Microphthalmia, Isolated 8
OMIM:615118	Craniometadiaphyseal Dysplasia
OMIM:615119	Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2
OMIM:615120	#615120 Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects;Cmsppd;;Myasthenic Syndrome, Congenital, Due To Agrin Deficiency
OMIM:615122	Lymphoproliferative Syndrome 2
OMIM:615127	Epilepsy, Familial Adult Myoclonic, 4
OMIM:615133	Udp-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase-Like 5
OMIM:615139	Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
OMIM:615141	Moved To 177700
OMIM:615145	Microphthalmia, Isolated, With Coloboma 9
OMIM:615147	Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
OMIM:615155	Steel Syndrome
OMIM:615156	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6
OMIM:615157	Mitochondrial Complex Iii Deficiency, Nuclear Type 2
OMIM:615158	Mitochondrial Complex Iii Deficiency, Nuclear Type 3
OMIM:615159	Mitochondrial Complex Iii Deficiency, Nuclear Type 4
OMIM:615160	Mitochondrial Complex Iii Deficiency, Nuclear Type 5
OMIM:615163	Cone-Rod Dystrophy 17
OMIM:615170	Wahab Syndrome
OMIM:615179	Albinism, Oculocutaneous, Type Vii
OMIM:615181	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
OMIM:615182	Combined D-2- And L-2-Hydroxyglutaric Aciduria
OMIM:615184	Cardiomyopathy, Dilated, 1ii
OMIM:615185	Charcot-Marie-Tooth Disease, Dominant Intermediate F
OMIM:615188	Cataract 39, Multiple Types
OMIM:615190	Dyskeratosis Congenita, Autosomal Recessive, 5
OMIM:615191	Lissencephaly 5
OMIM:615193	Bleeding Disorder, Platelet-Type, 15
OMIM:615198	Osteosclerotic Metaphyseal Dysplasia
OMIM:615206	Immunodeficiency 11
OMIM:615207	Il21r Immunodeficiency
OMIM:615214	Agammaglobulinemia 7, Autosomal Recessive
OMIM:615217	Ataxia-Oculomotor Apraxia 3
OMIM:615219	Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
OMIM:615220	Osteogenesis Imperfecta, Type Xv
OMIM:615222	Smith-Mccort Dysplasia 2
OMIM:615224	Advanced Sleep Phase Syndrome, Familial, 2
OMIM:615225	Corneal Intraepithelial Dyskeratosis And Ectodermal Dysplasia
OMIM:615226	Polydactyly, Postaxial, Type A6
OMIM:615228	Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
OMIM:615233	Retinitis Pigmentosa 66
OMIM:615234	Anemia, Hypochromic Microcytic, With Iron Overload 2
OMIM:615235	Cardiomyopathy, Dilated, 1jj
OMIM:615236	Woods Syndrome
OMIM:615238	Lipodystrophy, Familial Partial, Type 5
OMIM:615244	Nephrotic Syndrome, Type 8
OMIM:615264	Blood Group, Vel System
OMIM:615266	Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
OMIM:615267	Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
OMIM:615268	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
OMIM:615269	Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
OMIM:615270	Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
OMIM:615271	Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
OMIM:615272	Fanconi Anemia, Complementation Group Q
OMIM:615273	Congenital Disorder Of Deglycosylation
OMIM:615278	Cardiofaciocutaneous Syndrome 2
OMIM:615281	Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
OMIM:615282	Cortical Dysplasia, Complex, With Other Brain Malformations 2
OMIM:615284	Charcot-Marie-Tooth Disease, Type 4b3
OMIM:615285	Neutropenia, Severe Congenital, 5, Autosomal Recessive
OMIM:615286	Mental Retardation, Autosomal Recessive 36
OMIM:615287	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
OMIM:615290	Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant
OMIM:615293	Myofibromatosis, Infantile, 2
OMIM:615294	Ciliary Dyskinesia, Primary, 21
OMIM:615297	Adams-Oliver Syndrome 4
OMIM:615300	Perrault Syndrome 4
OMIM:615312	Albinism, Oculocutaneous, Type V
OMIM:615314	Craniosynostosis 3
OMIM:615325	Muscular Dystrophy, Limb-Girdle, Type 2r
OMIM:615327	Dowling-Degos Disease 2
OMIM:615328	Shaheen Syndrome
OMIM:615330	Multiple Mitochondrial Dysfunctions Syndrome 3
OMIM:615338	Epileptic Encephalopathy, Early Infantile, 16
OMIM:615342	Pulmonary Hypertension, Primary, 2
OMIM:615343	Pulmonary Hypertension, Primary, 3
OMIM:615346	Precocious Puberty, Central, 2
OMIM:615349	Ehlers-Danlos Syndrome, Progeroid Type, 2
OMIM:615350	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
OMIM:615351	Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 14
OMIM:615352	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
OMIM:615355	Noonan Syndrome 8
OMIM:615356	Muscular Dystrophy, Limb-Girdle, Type 2s
OMIM:615360	Leber Congenital Amaurosis 17
OMIM:615361	Hypocalcemia, Autosomal Dominant 2
OMIM:615362	Ceroid Lipofuscinosis, Neuronal, 13
OMIM:615363	Estrogen Resistance
OMIM:615368	Lethal Congenital Contracture Syndrome 5
OMIM:615369	Epileptic Encephalopathy, Childhood-Onset
OMIM:615373	Left Ventricular Noncompaction 8
OMIM:615374	Cone-Rod Dystrophy 18
OMIM:615376	Charcot-Marie-Tooth Disease, Recessive Intermediate C
OMIM:615381	Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
OMIM:615382	Nephronophthisis 16
OMIM:615386	Spinocerebellar Ataxia, Autosomal Recessive 14
OMIM:615387	T-Cell Receptor-Alpha/Beta Deficiency
OMIM:615395	Combined Oxidative Phosphorylation Deficiency 16
OMIM:615396	Left Ventricular Noncompaction 10
OMIM:615397	Meckel Syndrome, Type 11
OMIM:615398	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
OMIM:615399	Paroxysmal Nocturnal Hemoglobinuria 2
OMIM:615400	Epilepsy, Familial Adult Myoclonic, 5
OMIM:615401	Immunodeficiency 8
OMIM:615402	Dyschromatosis Universalis Hereditaria 3
OMIM:615411	Cortical Dysplasia, Complex, With Other Brain Malformations 3
OMIM:615412	Cortical Dysplasia, Complex, With Other Brain Malformations 4
OMIM:615413	Spermatogenic Failure 12
OMIM:615414	Microcephaly 11, Primary, Autosomal Recessive
OMIM:615415	Renal-Hepatic-Pancreatic Dysplasia 2
OMIM:615418	Mitochondrial Dna Depletion Syndrome 12 (Cardiomyopathic Type)
OMIM:615419	Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
OMIM:615420	Myopia 22, Autosomal Dominant
OMIM:615425	Epidermolysis Bullosa Simplex, Autosomal Recessive 2
OMIM:615429	Deafness, Autosomal Recessive 88
OMIM:615432	Specific Language Impairment 5
OMIM:615433	Chromosome 3q13.31 Deletion Syndrome
OMIM:615434	Retinitis Pigmentosa With Or Without Situs Inversus
OMIM:615436	Aortic Aneurysm, Familial Thoracic 8
OMIM:615439	Macular Degeneration, Age-Related, 13
OMIM:615440	Combined Oxidative Phosphorylation Deficiency 17
OMIM:615441	Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, With Or Without Muscle Weakness
OMIM:615444	Ciliary Dyskinesia, Primary, 22
OMIM:615451	Ciliary Dyskinesia, Primary, 23
OMIM:615453	Mitochondrial Complex Iii Deficiency, Nuclear Type 6
OMIM:615457	Body Mass Index Quantitative Trait Locus 18
OMIM:615458	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
OMIM:615465	Hartsfield Syndrome
OMIM:615468	Immunodeficiency 12
OMIM:615471	Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
OMIM:615473	Epileptic Encephalopathy, Early Infantile, 17
OMIM:615474	Primary Aldosteronism, Seizures, And Neurologic Abnormalities
OMIM:615476	Epileptic Encephalopathy, Early Infantile, 18
OMIM:615481	Ciliary Dyskinesia, Primary, 24
OMIM:615482	Ciliary Dyskinesia, Primary, 25
OMIM:615483	Basal Ganglia Calcification, Idiopathic, 5
OMIM:615490	Charcot-Marie-Tooth Disease, Axonal, Type 2r
OMIM:615491	Neurodegeneration With Optic Atrophy, Childhood-Onset
OMIM:615493	Mental Retardation, Autosomal Recessive 37
OMIM:615500	Ciliary Dyskinesia, Primary, 26
OMIM:615502	Mental Retardation, Autosomal Dominant 21
OMIM:615503	Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
OMIM:615504	Ciliary Dyskinesia, Primary, 27
OMIM:615505	Ciliary Dyskinesia, Primary, 28
OMIM:615506	Telangiectasia, Hereditary Hemorrhagic, Type 5
OMIM:615508	Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
OMIM:615510	Alacrima, Achalasia, And Mental Retardation Syndrome
OMIM:615512	Triosephosphate Isomerase Deficiency
OMIM:615515	Amyotrophic Lateral Sclerosis 19
OMIM:615516	Mental Retardation, Autosomal Recessive 38
OMIM:615517	Hemochromatosis, Type 5
OMIM:615518	Immunodeficiency 13
OMIM:615522	Cole Disease
OMIM:615523	Corneal Dystrophy, Fuchs Endothelial, 8
OMIM:615524	Microphthalmia, Syndromic 12
OMIM:615527	Candidiasis, Familial, 8
OMIM:615528	Parkinson Disease 19, Juvenile-Onset
OMIM:615529	Craniosynostosis 5, Susceptibility To
OMIM:615530	Parkinson Disease 20, Early-Onset
OMIM:615537	Reticulate Acropigmentation Of Kitamura
OMIM:615539	Ehlers-Danlos Syndrome, Musculocontractural Type 2
OMIM:615540	Deafness, Autosomal Recessive 76
OMIM:615541	Mental Retardation, Autosomal Recessive 39
OMIM:615542	Testicular Anomalies With Or Without Congenital Heart Disease
OMIM:615544	Periventricular Nodular Heterotopia 6
OMIM:615546	Van Maldergem Syndrome 2
OMIM:615547	Prader-Willi-Like Syndrome
OMIM:615548	Neuropathy, Hereditary Sensory And Autonomic, Type Vii
OMIM:615550	Diamond-Blackfan Anemia 12
OMIM:615551	Episodic Pain Syndrome, Familial, 2
OMIM:615552	Episodic Pain Syndrome, Familial, 3
OMIM:615553	Arthrogryposis, Mental Retardation, And Seizures
OMIM:615554	Multiple Fibroadenomas Of The Breast
OMIM:615555	Hyperprolactinemia
OMIM:615558	Hypobetalipoproteinemia, Familial, 1
OMIM:615559	Immunodeficiency, Common Variable, 9
OMIM:615560	Otofaciocervical Syndrome 2
OMIM:615565	Retinitis Pigmentosa 67
OMIM:615573	Nephrotic Syndrome, Type 9
OMIM:615574	Asparagine Synthetase Deficiency
OMIM:615575	Neuronopathy, Distal Hereditary Motor, Type Iid
OMIM:615577	Immunodeficiency, Common Variable, 10
OMIM:615578	Combined Oxidative Phosphorylation Deficiency 18
OMIM:615582	Rienhoff Syndrome
OMIM:615583	Verheij Syndrome
OMIM:615589	Otosclerosis 10
OMIM:615592	Immunodeficiency 15
OMIM:615595	Combined Oxidative Phosphorylation Deficiency 19
OMIM:615596	Congenital Disorder Of Glycosylation, Type Iw
OMIM:615597	Congenital Disorder Of Glycosylation, Type Ix
OMIM:615598	Palmoplantar Keratoderma, Nagashima Type
OMIM:615599	Mental Retardation, Autosomal Recessive 40
OMIM:615604	L-Ferritin Deficiency
OMIM:615605	Fanconi Renotubular Syndrome 3
OMIM:615607	Immunodeficiency 17
OMIM:615612	Developmental Dysplasia Of The Hip 2
OMIM:615615	Immunodeficiency 18
OMIM:615616	Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
OMIM:615617	Immunodeficiency 19
OMIM:615619	Cholangiocarcinoma, Susceptibility To
OMIM:615625	Spastic Paraplegia 72, Autosomal Recessive
OMIM:615629	Deafness, Autosomal Dominant 56
OMIM:615630	Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
OMIM:615631	Anemia, Congenital Dyserythropoietic, Type Ib
OMIM:615632	Neuropathy, Hereditary Sensory, Type If
OMIM:615633	Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
OMIM:615636	Joubert Syndrome 21
OMIM:615637	Mental Retardation, Autosomal Recessive 41
OMIM:615643	Neurodegeneration With Brain Iron Accumulation 6
OMIM:615649	Deafness, Autosomal Dominant 54
OMIM:615651	Leukoencephalopathy With Ataxia
OMIM:615654	Deafness, Autosomal Dominant 58
OMIM:615656	Chromosome 15q11.2 Deletion Syndrome
OMIM:615658	Spastic Paraplegia 57, Autosomal Recessive
OMIM:615663	Warburg Micro Syndrome 4
OMIM:615665	Joubert Syndrome 22
OMIM:615670	Schwannomatosis 2
OMIM:615674	Dowling-Degos Disease 3
OMIM:615688	Polyarteritis Nodosa
OMIM:615696	Dowling-Degos Disease 4
OMIM:615704	Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
OMIM:615705	Spinocerebellar Ataxia, Autosomal Recessive 15
OMIM:615706	Auriculocondylar Syndrome 3
OMIM:615707	Immunodeficiency 20
OMIM:615709	#615709 Sacral Agenesis With Vertebral Anomalies; Sava
OMIM:615710	Mitchell-Riley Syndrome
OMIM:615715	Bone Marrow Failure Syndrome 2
OMIM:615721	Renal Hypodysplasia/Aplasia 2
OMIM:615722	Bosch-Boonstra Optic Atrophy Syndrome
OMIM:615723	Premature Ovarian Failure 8
OMIM:615724	Premature Ovarian Failure 9
OMIM:615725	Retinitis Pigmentosa 68
OMIM:615731	Nemaline Myopathy 9
OMIM:615735	Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
OMIM:615774	#615774 Oocyte Maturation Defect; Oomd
ORPHANET:100024	Mu Heavy-Chain Disease
ORPHANET:100025	Alpha Heavy-Chain Disease
ORPHANET:100026	Gamma Heavy-Chain Disease
ORPHANET:100073	Neurogenic Thoracic Outlet Syndrome
ORPHANET:1006	Alopecia Antibody Deficiency
ORPHANET:100	Ataxia-Telangiectasia
ORPHANET:101330	Porphyria Cutanea Tarda
ORPHANET:1034	Amniotic Bands
ORPHANET:1040	Metaphyseal Anadysplasia
ORPHANET:10	48,Xxyy Syndrome
ORPHANET:1052	Mosaic Variegated Aneuploidy Syndrome
ORPHANET:1053	Vein Of Galen Aneurysm
ORPHANET:1055	Fetal Left Ventricular Aneurysm
ORPHANET:1067	Aniridia - Ptosis - Intellectual Disability - Familial Obesity
ORPHANET:1068	Aniridia-Intellectual Disability Syndrome
ORPHANET:1074	Ankyloblepharon Filiforme - Imperforate Anus
ORPHANET:1077	Dental Ankylosis
ORPHANET:107	Bor Syndrome
ORPHANET:1088	Short Stature - Heart Defect - Craniofacial Anomalies
ORPHANET:108	Babesiosis
ORPHANET:1101	Anophthalmia - Megalocornea - Cardiopathy - Skeletal Anomalies
ORPHANET:1123	Caudal Appendage - Deafness
ORPHANET:1129	Arachnodactyly - Abnormal Ossification - Intellectual Disability
ORPHANET:112	Bartter Syndrome
ORPHANET:1130	Arachnodactyly - Intellectual Disability - Dysmorphism
ORPHANET:1132	Aortic Arch Defects
ORPHANET:1134	Arrhinia
ORPHANET:1146	Digitotalar Dysmorphism
ORPHANET:1167	Facial Asymmetry - Temporal Seizures
ORPHANET:1173	Cerebellar Ataxia - Hypogonadism
ORPHANET:1184	Ataxia - Photosensitivity - Short Stature
ORPHANET:11	Pentasomy X
ORPHANET:1236	Intellectual Disability - Athetosis - Microphthalmia
ORPHANET:124	Blackfan-Diamond Anemia
ORPHANET:1250	Blaichman Syndrome
ORPHANET:1256	Blepharophimosis - Radioulnar Synostosis
ORPHANET:1258	Blepharoptosis - Cleft Palate - Ectrodactyly - Dental Anomalies
ORPHANET:1267	Botulism
ORPHANET:1277	Brachydactyly - Mesomelia - Intellectual Disability - Heart Defects
ORPHANET:1293	Brachyolmia
ORPHANET:129	Pseudopelade Of Brocq
ORPHANET:1305	Feingold Syndrome
ORPHANET:1309	Medullary Sponge Kidney
ORPHANET:1314	Symmetrical Thalamic Calcifications
ORPHANET:1325	Camptodactyly - Taurinuria
ORPHANET:1329	Complete Atrioventricular Canal
ORPHANET:1334	Chronic Mucocutaneous Candidiasis
ORPHANET:1340	Cardiofaciocutaneous Syndrome
ORPHANET:1345	Cardiomyopathy - Cataract - Hip Spine Disease
ORPHANET:1350	Heart-Hand Syndrome Type 2
ORPHANET:1359	Carney Complex
ORPHANET:1369	Congenital Cataract - Hypertrophic Cardiomyopathy - Mitochondrial Myopathy
ORPHANET:137608	Segmental Outgrowth - Lipomatosis - Arteriovenous Malformation - Epidermal Nevus
ORPHANET:1377	Cataract-Microcornea Syndrome
ORPHANET:1381	Cataract - Intellectual Disability - Anal Atresia - Urinary Defects
ORPHANET:1383	Cataract - Deafness - Hypogonadism
ORPHANET:1390	Night Blindness - Skeletal Anomalies - Dysmorphism
ORPHANET:139402	Drug Rash With Eosinophilia And Systemic Symptoms
ORPHANET:139436	Multicentric Reticulohistiocytosis
ORPHANET:1398	Isolated Cerebellar Hypoplasia/Agenesis
ORPHANET:1406	Charlie M Syndrome
ORPHANET:140	Campomelic Dysplasia
ORPHANET:1412	Tarsal-Carpal Coalition Syndrome
ORPHANET:1416	Familial Calcium Pyrophosphate Deposition
ORPHANET:1420	Lethal Chondrodysplasia, Moerman Type
ORPHANET:1423	Lethal Recessive Chondrodysplasia
ORPHANET:1425	Desbuquois Syndrome
ORPHANET:1429	Benign Familial Chorea
ORPHANET:1433	Choroidal Atrophy - Alopecia
ORPHANET:1434	Choroideremia - Hypopituitarism
ORPHANET:1437	Ring Chromosome 1
ORPHANET:1438	Ring Chromosome 10
ORPHANET:1447	Ring Chromosome 4
ORPHANET:1448	Ring Chromosome 6
ORPHANET:1450	Ring Chromosome 8
ORPHANET:1452	Cleidocranial Dysplasia
ORPHANET:1455	Autosomal Dominant Coarctation Of Aorta
ORPHANET:1461	Criss-Cross Heart
ORPHANET:1465	Coffin-Siris Syndrome
ORPHANET:1466	Cofs Syndrome
ORPHANET:1467	Cogan Syndrome
ORPHANET:1478	Interauricular Communication
ORPHANET:148	Multiple Carboxylase Deficiency
ORPHANET:1492	Corpus Callosum Agenesis - Double Urinary Collecting System
ORPHANET:1495	Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag
ORPHANET:1499	Cortada-Koussef-Matsumoto Syndrome
ORPHANET:1505	Short Rib-Polydactyly Syndrome
ORPHANET:1506	Thin Ribs - Tubular Bones - Dysmorphism
ORPHANET:1513	Craniodiaphyseal Dysplasia
ORPHANET:1515	Cranioectodermal Dysplasia
ORPHANET:1522	Craniometaphyseal Dysplasia
ORPHANET:1530	Craniosynostosis - Cataract
ORPHANET:1535	Craniosynostosis - Dysmorphism - Brachydactyly
ORPHANET:1548	Cryptorchidism - Arachnodactyly - Intellectual Disability
ORPHANET:154	Familial Isolated Dilated Cardiomyopathy
ORPHANET:1564	Dandy-Walker Malformation - Facial Hemangioma
ORPHANET:1570	Symbrachydactyly Of Hands And Feet
ORPHANET:1572	Common Variable Immunodeficiency
ORPHANET:1577	Infantile Thalamic Degeneration
ORPHANET:157991	Generalized Eruptive Histiocytosis
ORPHANET:157997	Benign Cephalic Histiocytosis
ORPHANET:157	Carnitine Palmitoyl Transferase Ii Deficiency
ORPHANET:158000	Juvenile Xanthogranuloma
ORPHANET:158003	Xanthoma Disseminatum
ORPHANET:158008	Papular Xanthoma
ORPHANET:158022	Progressive Nodular Histiocytosis
ORPHANET:1581	Non-Distal Monosomy 10q
ORPHANET:158673	Acral Dystrophic Epidermolysis Bullosa
ORPHANET:158676	Dystrophic Epidermolysis Bullosa, Nails Only
ORPHANET:1597	Distal Monosomy 17q
ORPHANET:1625	Deletion 4q
ORPHANET:1636	Distal Monosomy 7q36
ORPHANET:163703	Febrile Infection-Related Epilepsy Syndrome
ORPHANET:1642	Distal Monosomy 9p
ORPHANET:1643	Xp22.3 Microdeletion Syndrome
ORPHANET:1651	Dennis-Cohen Syndrome
ORPHANET:1653	Dentin Dysplasia
ORPHANET:165	Neutral Lipid Storage Disease
ORPHANET:166002	Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHANET:1664	Embryonary Disorganization Syndrome
ORPHANET:1672	Diencephalic Syndrome
ORPHANET:1681	Diprosopia
ORPHANET:168491	Late Infantile Neuronal Ceroid Lipofuscinosis
ORPHANET:168811	Malignant Peritoneal Mesothelioma
ORPHANET:168816	Peritoneal Cystic Mesothelioma
ORPHANET:168829	Primary Peritoneal Carcinoma
ORPHANET:169090	Combined Immunodeficiency Due To Crac Channel Dysfunction
ORPHANET:169105	Good Syndrome
ORPHANET:1695	Non-Distal Trisomy 10q
ORPHANET:1699	Trisomy 12p
ORPHANET:1702	Non-Distal Trisomy 13q
ORPHANET:1703	Mosaic Trisomy 14
ORPHANET:1705	Distal Trisomy 14q
ORPHANET:1706	Mosaic Trisomy 15
ORPHANET:1707	Distal Trisomy 15q
ORPHANET:170	Woolly Hair
ORPHANET:1716	Distal Trisomy 18q
ORPHANET:171829	6q16 Deletion Syndrome
ORPHANET:171839	Craniosynostosis - Hydrocephalus - Chiari I Malformation - Radioulnar Synostosis
ORPHANET:172	Progressive Familial Intrahepatic Cholestasis
ORPHANET:1738	Trisomy 4p
ORPHANET:1739	Duplication 4q
ORPHANET:1742	Trisomy 5p
ORPHANET:1745	Distal Trisomy 6p
ORPHANET:1752	Trisomy 8q
ORPHANET:1757	Fibular Dimelia - Diplopodia
ORPHANET:1759	Thoraco-Abdominal Enteric Duplication
ORPHANET:1766	Dysequilibrium Syndrome
ORPHANET:176	Non-Rhizomelic Chondrodysplasia Punctata
ORPHANET:1773	Sacrococcygeal Dysgenesis Association
ORPHANET:1775	Dyskeratosis Congenita
ORPHANET:1778	Facial Dysmorphism - Shawl Scrotum - Joint Laxity
ORPHANET:1779	Dysmorphism - Cleft Palate - Loose Skin
ORPHANET:177	Rhizomelic Chondrodysplasia Punctata
ORPHANET:178029	Central Diabetes Insipidus
ORPHANET:178045	Transient Congenital Hypothyroidism
ORPHANET:178377	Osteosclerosis - Developmental Delay - Craniosynostosis
ORPHANET:178475	Wound Botulism
ORPHANET:178478	Infant Botulism
ORPHANET:178481	Intestinal Botulism
ORPHANET:178487	Adult Intestinal Botulism
ORPHANET:1791	Frontofacionasal Dysplasia
ORPHANET:1794	Oculomaxillofacial Dysostosis
ORPHANET:1809	Hidrotic Ectodermal Dysplasia, Halal Type
ORPHANET:1810	Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
ORPHANET:1819	Epimetaphyseal Skeletal Dysplasia
ORPHANET:1825	Epiphyseal Dysplasia - Hearing Loss - Dysmorphism
ORPHANET:1834	Axial Mesodermal Dysplasia Spectrum
ORPHANET:183660	Severe Combined Immunodeficiency
ORPHANET:1836	Mesomelic Dysplasia, Kantaputra Type
ORPHANET:183	Eosinophilic Granulomatosis With Polyangiitis
ORPHANET:1850	Renal Dysplasia - Megalocystis - Sirenomelia
ORPHANET:1863	Trochlear Dysplasia
ORPHANET:1871	Progressive Cone Dystrophy
ORPHANET:1872	Cone Rod Dystrophy
ORPHANET:1877	Muscular Dystrophy - White Matter Spongiosis
ORPHANET:1879	Melorheostosis With Osteopoikilosis
ORPHANET:1884	Ectopia Lentis - Chorioretinal Dystrophy - Myopia
ORPHANET:1885	Isolated Ectopia Lentis
ORPHANET:188	Systemic Capillary Leak Syndrome
ORPHANET:189439	Primary Pigmented Nodular Adrenocortical Disease
ORPHANET:1894	Ectrodactyly - Spina Bifida - Cardiopathy
ORPHANET:1896	Eec Syndrome
ORPHANET:1908	Aminopterin/Methotrexate Embryofetopathy
ORPHANET:1909	Indomethacin Embryofetopathy
ORPHANET:1911	Cocaine Embryofetopathy
ORPHANET:1912	Fetal Hydantoin Syndrome
ORPHANET:1913	Fetal Trimethadione Syndrome
ORPHANET:1914	Embryofetopathy Due To Oral Anticoagulant Therapy
ORPHANET:1915	Fetal Alcohol Syndrome
ORPHANET:1917	Fetal Methylmercury Syndrome
ORPHANET:1918	Fetal Minoxidil Syndrome
ORPHANET:1919	Phenobarbital Embryopathy
ORPHANET:191	Cockayne Syndrome
ORPHANET:1920	Toluene Embryopathy
ORPHANET:1923	Methimazole Embryofetopathy
ORPHANET:1926	Diabetic Embryopathy
ORPHANET:1931	Frontal Encephalocele
ORPHANET:1940	Shoulder And Thorax Deformity - Congenital Heart Disease
ORPHANET:1949	Benign Familial Neonatal Seizures
ORPHANET:1956	Erythromelalgia
ORPHANET:1969	Faces Syndrome
ORPHANET:1980	Bilateral Striopallidodentate Calcinosis
ORPHANET:199251	Ledderhose Disease
ORPHANET:1995	Cleft Lip - Retinopathy
ORPHANET:199	Cornelia De Lange Syndrome
ORPHANET:2003	Cleft Lip/Palate - Deafness - Sacral Lipoma
ORPHANET:2005	Laryngo-Tracheo-Esophageal Cleft - Pulmonary Hypoplasia
ORPHANET:2006	Median Cleft Lip/Mandibule
ORPHANET:2015	Cleft Palate - Short Stature - Vertebral Anomalies
ORPHANET:2017	Sternal Cleft
ORPHANET:201	Cowden Syndrome
ORPHANET:2020	Congenital Fiber-Type Disproportion Myopathy
ORPHANET:2021	Fibrochondrogenesis
ORPHANET:2024	Hereditary Gingival Fibromatosis
ORPHANET:2029	Multiple Non-Ossifying Fibromatosis
ORPHANET:202	Crandall Syndrome
ORPHANET:2033	Multifocal Muscular Fibrosis - Obstructed Vessels
ORPHANET:2040	Congenital Bronchobiliary Fistula
ORPHANET:2042	Tracheo-Esophageal Fistula - Hypospadias
ORPHANET:2045	Flotch Syndrome
ORPHANET:2048	Foix-Chavany-Marie Syndrome
ORPHANET:2053	Freeman-Sheldon Syndrome
ORPHANET:2058	Fryns-Smeets-Thiry Syndrome
ORPHANET:205	Crigler-Najjar Syndrome
ORPHANET:2060	Fukuda-Miyanomae-Nakata Syndrome
ORPHANET:2062	Progressive Non-Infectious Anterior Vertebral Fusion
ORPHANET:2073	Narcolepsy-Cataplexy
ORPHANET:2074	Gemignani Syndrome
ORPHANET:2076	X-Linked Intellectual Disability - Epilepsy
ORPHANET:2081	Cerebral Gigantism - Jaw Cysts
ORPHANET:2099	Grix-Blankenship-Peterson Syndrome
ORPHANET:209	Cutis Laxa
ORPHANET:2104	Dysmorphism - Pectus Carinatum - Joint Laxity
ORPHANET:2111	Cystic Hamartoma Of Lung And Kidney
ORPHANET:2120	Heckenlively Syndrome
ORPHANET:2123	Diffuse Neonatal Hemangiomatosis
ORPHANET:2129	Hemihypertrophy - Intestinal Web - Corneal Opacity
ORPHANET:2139	Hernndez-Aguirre Negrete Syndrome
ORPHANET:213	Cystinosis
ORPHANET:2140	Congenital Diaphragmatic Hernia
ORPHANET:2145	Craniosynostosis, Herrmann-Opitz Type
ORPHANET:2149	Nodular Neuronal Heterotopia
ORPHANET:2151	Hirschsprung Disease - Ganglioneuroblastoma
ORPHANET:2161	Holoacardius Amorphus
ORPHANET:2162	Holoprosencephaly
ORPHANET:2165	Holoprosencephaly - Caudal Dysgenesis
ORPHANET:216	Neuronal Ceroid Lipofuscinosis
ORPHANET:2183	Hydrocephalus - Obesity - Hypogonadism
ORPHANET:2184	Hydrocephaly - Low Insertion Umbilicus
ORPHANET:2185	Congenital Hydrocephalus
ORPHANET:2186	Hydrocephalus - Blue Sclerae - Nephropathy
ORPHANET:2189	Hydrolethalus
ORPHANET:2190	Congenital Hydronephrosis
ORPHANET:220295	Xeroderma Pigmentosum/Cockayne Syndrome Complex
ORPHANET:220393	Diffuse Cutaneous Systemic Sclerosis
ORPHANET:220402	Limited Cutaneous Systemic Sclerosis
ORPHANET:220493	Joubert Syndrome With Ocular Defect
ORPHANET:220497	Joubert Syndrome With Renal Defect
ORPHANET:2204	Dysplastic Cortical Hyperostosis
ORPHANET:221008	Rothmund-Thomson Syndrome Type 1
ORPHANET:221016	Rothmund-Thomson Syndrome Type 2
ORPHANET:2216	Maternal Hyperthermia Induced Birth Defects
ORPHANET:2221	Acquired Hypertrichosis Lanuginosa
ORPHANET:2222	Hypertrichosis Lanuginosa Congenita
ORPHANET:222	Erosive Pustular Dermatosis Of The Scalp
ORPHANET:2230	Hypogonadotropic Hypogonadism - Frontoparietal Alopecia
ORPHANET:2233	Hypogonadism - Mitral Valve Prolapse - Intellectual Disability
ORPHANET:2235	Hypogonadotropic Hypogonadism - Retinitis Pigmentosa
ORPHANET:2238	Familial Isolated Hypoparathyroidism
ORPHANET:2248	Hypoplastic Left Heart Syndrome
ORPHANET:2254	Pontocerebellar Hypoplasia Type 1
ORPHANET:2258	Congenital Unilateral Pulmonary Hypoplasia
ORPHANET:226307	Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
ORPHANET:2268	Icf Syndrome
ORPHANET:2271	Congenital Ichthyosis - Microcephalus - Tetraplegia
ORPHANET:228116	Hughes-Stovin Syndrome
ORPHANET:2282	Dysmorphism - Short Stature - Deafness - Disorder Of Sex Development
ORPHANET:228371	Foodborne Botulism
ORPHANET:228396	Ptosis - Upper Ocular Movement Limitation - Absence Of Lacrimal Punctum
ORPHANET:228399	8q12 Microduplication Syndrome
ORPHANET:228410	Polyvalvular Heart Disease Syndrome
ORPHANET:228415	5q35 Microduplication Syndrome
ORPHANET:2292	Congenital Bowing Of Long Bones
ORPHANET:229717	Isolated Agammaglobulinemia
ORPHANET:2301	Congenital Short Bowel Syndrome
ORPHANET:2305	Isotretinoin Syndrome
ORPHANET:2309	Pachyonychia Congenita
ORPHANET:231169	Usher Syndrome Type 1
ORPHANET:231178	Usher Syndrome Type 2
ORPHANET:231183	Usher Syndrome Type 3
ORPHANET:2311	Autosomal Recessive Spondylocostal Dysostosis
ORPHANET:231230	Beta-Thalassemia Associated With Another Hemoglobin Anomaly
ORPHANET:231242	Hemoglobin C - Beta-Thalassemia
ORPHANET:231249	Hemoglobin E - Beta-Thalassemia
ORPHANET:231736	Microcornea - Posterior Megalolenticonus - Persistent Fetal Vasculature - Coloboma
ORPHANET:2318	Joubert Syndrome With Oculorenal Defect
ORPHANET:231	Dracunculiasis
ORPHANET:2322	Kabuki Syndrome
ORPHANET:2325	Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
ORPHANET:2326	Kallmann Syndrome - Heart Disease
ORPHANET:2333	Kenny-Caffey Syndrome
ORPHANET:233	Duane Retraction Syndrome
ORPHANET:2340	Keratosis Follicularis Spinulosa Decalvans
ORPHANET:2343	Isolated Cloverleaf Skull Syndrome
ORPHANET:2345	Isolated Klippel-Feil Syndrome
ORPHANET:2346	Angio-Osteohypertrophic Syndrome
ORPHANET:2349	Muscular Pseudohypertrophy - Hypothyroidism
ORPHANET:2351	Kousseff Syndrome
ORPHANET:2352	Kozlowski-Brown-Hardwick Syndrome
ORPHANET:2369	Limb Body Wall Complex
ORPHANET:236	Trisomy 9p
ORPHANET:238468	Hypohidrotic Ectodermal Dysplasia
ORPHANET:238606	Primary Orthostatic Tremor
ORPHANET:2386	Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
ORPHANET:238769	1q44 Microdeletion Syndrome
ORPHANET:239	Dyggve-Melchior-Clausen Disease
ORPHANET:2406	Locked-In Syndrome
ORPHANET:2408	Lowe-Kohn-Cohen Syndrome
ORPHANET:2416	Congenital Primary Lymphedema
ORPHANET:241	Dyschromatosis Universalis
ORPHANET:242	46,Xy Complete Gonadal Dysgenesis
ORPHANET:2427	Macrocephaly - Short Stature - Paraplegia
ORPHANET:2431	Central Bilateral Macrogyria
ORPHANET:243	46,Xx Gonadal Dysgenesis
ORPHANET:2440	Split Hand-Split Foot Malformation
ORPHANET:2442	X-Linked Lymphoproliferative Disease
ORPHANET:2444	Congenital Pulmonary Airway Malformation
ORPHANET:244	Primary Ciliary Dyskinesia
ORPHANET:2457	Mandibuloacral Dysplasia
ORPHANET:2467	Systemic Mastocytosis
ORPHANET:2470	Matthew-Wood Syndrome
ORPHANET:2476	Medeira-Dennis-Donnai Syndrome
ORPHANET:2477	Megalencephaly
ORPHANET:2482	Melhem-Fahl Syndrome
ORPHANET:2486	Transverse Limb Deficiency - Hemangioma
ORPHANET:2487	Lower Limb Deficiency - Hypospadias
ORPHANET:248	Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
ORPHANET:2492	Limb Transversal Defect - Cardiac Anomaly
ORPHANET:250984	Autosomal Recessive Stickler Syndrome
ORPHANET:250	Frontonasal Dysplasia
ORPHANET:251014	2q31.1 Microdeletion Syndrome
ORPHANET:251046	6p22 Microdeletion Syndrome
ORPHANET:251066	8p11.2 Deletion Syndrome
ORPHANET:251071	8p23.1 Microdeletion Syndrome
ORPHANET:251076	8p23.1 Microduplication Syndrome
ORPHANET:2510	Micro Syndrome
ORPHANET:251510	46,Xy Partial Gonadal Dysgenesis
ORPHANET:2519	Microcephaly - Seizures - Intellectual Disability - Heart Disease
ORPHANET:251	Multiple Epiphyseal Dysplasia
ORPHANET:2521	Microcephaly - Cleft Palate
ORPHANET:2523	Microcephaly - Brain Defect - Spasticity - Hypernatremia
ORPHANET:2528	Microcephaly-Microcornea Syndrome, Seemanova Type
ORPHANET:2535	Microcornea - Corectopia - Macular Hypoplasia
ORPHANET:254346	19p13.12 Microdeletion Syndrome
ORPHANET:2543	Microphthalmia - Cataract
ORPHANET:254504	Inhalational Botulism
ORPHANET:254509	Iatrogenic Botulism
ORPHANET:2547	Microphthalmia - Microtia - Fetal Akinesia
ORPHANET:2554	Ear-Patella-Short Stature Syndrome
ORPHANET:2556	Microphthalmia With Linear Skin Defects Syndrome
ORPHANET:2558	Mikati-Najjar-Sahli Syndrome
ORPHANET:255	Dopa-Responsive Dystonia
ORPHANET:256	Early-Onset Generalized Limb-Onset Dystonia
ORPHANET:2573	Moyamoya Disease
ORPHANET:2580	Shoulder And Girdle Defects - Familial Intellectual Disability
ORPHANET:2582	Myalgia-Eosinophilia Syndrome Associated With Tryptophan
ORPHANET:2591	Infantile Myofibromatosis
ORPHANET:2598	Mitochondrial Myopathy And Sideroblastic Anemia
ORPHANET:2601	Myopathy - Growth Delay - Intellectual Disability - Hypospadias
ORPHANET:261102	Distal 7q11.23 Microduplication Syndrome
ORPHANET:261144	14q12 Microdeletion Syndrome
ORPHANET:261190	15q14 Microdeletion Syndrome
ORPHANET:2611	Linear Verrucous Nevus Syndrome
ORPHANET:261204	16p11.2p12.2 Microduplication Syndrome
ORPHANET:261236	16p13.11 Microdeletion Syndrome
ORPHANET:261243	16p13.11 Microduplication Syndrome
ORPHANET:261250	16q24.3 Microdeletion Syndrome
ORPHANET:261290	Trisomy 17p
ORPHANET:261295	20p12.3 Microdeletion Syndrome
ORPHANET:261304	Paternal 20q13.2q13.3 Microdeletion Syndrome
ORPHANET:261318	Trisomy 20p
ORPHANET:261337	Distal 22q11.2 Microduplication Syndrome
ORPHANET:261344	Trisomy 1q
ORPHANET:2616	3m Syndrome
ORPHANET:261	Emery-Dreifuss Muscular Dystrophy
ORPHANET:2621	Low Birth Weight - Dwarfism - Dysgammaglobulinemia
ORPHANET:2623	Geleophysic Dysplasia
ORPHANET:262	Duchenne And Becker Muscular Dystrophy
ORPHANET:2636	Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
ORPHANET:264200	14q22q23 Microdeletion Syndrome
ORPHANET:2653	Osteochondrodysplatic Nanism - Deafness - Retinitis Pigmentosa
ORPHANET:2655	Thanatophoric Dysplasia
ORPHANET:2666	Adult Familial Nephronophthisis - Spastic Quadriparesia
ORPHANET:2675	Neuroaxonal Dystrophy - Renal Tubular Acidosis
ORPHANET:2676	Neuroectodermal-Endocrine Syndrome
ORPHANET:26790	Pseudomyxoma Peritonei
ORPHANET:2679	Infantile Axonal Neuropathy
ORPHANET:2680	Hypomyelination Neuropathy - Arthrogryposis
ORPHANET:268249	Mycophenolate Mofetil Embryopathy
ORPHANET:2690	Neutropenia - Monocytopenia - Deafness
ORPHANET:2695	Bifid Nose
ORPHANET:2697	Arthrogryposis - Renal Dysfunction - Cholestasis
ORPHANET:269	Facioscapulohumeral Dystrophy
ORPHANET:26	Methylmalonic Acidemia With Homocystinuria
ORPHANET:2703	Port-Wine Nevi - Mega Cisterna Magna - Hydrocephalus
ORPHANET:2704	Ochoa Syndrome
ORPHANET:2705	Oculocerebral Dysplasia
ORPHANET:2710	Oculodentodigital Dysplasia
ORPHANET:2716	Oculo-Skeletal-Renal Syndrome
ORPHANET:2722	Odonto-Onycho Dysplasia - Alopecia
ORPHANET:2732	Olivopontocerebellar Atrophy - Deafness
ORPHANET:2733	Omodysplasia
ORPHANET:2742	Ophthalmoplegia - Myalgia - Tubular Aggregates
ORPHANET:2745	Opitz G/Bbb Syndrome
ORPHANET:2749	Oro-Mandibular-Limb Hypogenesis Syndrome
ORPHANET:2754	Joubert Syndrome With Orofaciodigital Defect
ORPHANET:275543	L1 Syndrome
ORPHANET:2759	Imperforate Oropharynx - Costo Vetebral Anomalies
ORPHANET:276413	10q22.3q23.3 Microdeletion Syndrome
ORPHANET:276422	10q22.3q23.3 Microduplication Syndrome
ORPHANET:276630	Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
ORPHANET:2768	Blount Disease
ORPHANET:2771	Bruck Syndrome
ORPHANET:2773	Osteogenesis Imperfecta - Retinopathy - Seizures - Intellectual Disability
ORPHANET:2785	Osteopetrosis With Renal Tubular Acidosis
ORPHANET:2787	Osteoporosis - Macrocephaly - Blindness - Joint Hyperlaxity
ORPHANET:2792	Otofaciocervical Syndrome
ORPHANET:2795	Polycystic Ovaries - Urethral Sphincter Dysfunction
ORPHANET:2796	Pachydermoperiostosis
ORPHANET:279882	Spasmus Nutans
ORPHANET:2805	Partial Pancreatic Agenesis
ORPHANET:280785	Bullous Diffuse Cutaneous Mastocytosis
ORPHANET:280794	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
ORPHANET:281122	Self-Healing Collodion Baby
ORPHANET:281127	Acral Self-Healing Collodion Baby
ORPHANET:2819	Spastic Paraplegia - Facial-Cutaneous Lesions
ORPHANET:2833	Stiff Skin Syndrome
ORPHANET:2838	Renal Caliceal Diverticuli - Deafness
ORPHANET:2842	Penoscrotal Transposition
ORPHANET:284400	Small Cell Carcinoma Of The Bladder
ORPHANET:2846	Congenital Pericardium Anomaly
ORPHANET:2847	Pericardial And Diaphragmatic Defect
ORPHANET:2850	Alopecia-Intellectual Disability Syndrome
ORPHANET:2855	Perrault Syndrome
ORPHANET:2865	Short Stature - Webbed Neck - Heart Disease
ORPHANET:2866	Short Stature - Deafness - Neutrophil Dysfunction - Dysmorphism
ORPHANET:2875	Phakomatosis Pigmentovascularis
ORPHANET:287	Ehlers-Danlos Syndrome, Classic Type
ORPHANET:2890	Pili Torti - Onychodysplasia
ORPHANET:2894	Pilotto Syndrome
ORPHANET:28	Vitamin B12-Responsive Methylmalonic Acidemia
ORPHANET:2905	Poems Syndrome
ORPHANET:2907	Hereditary Acrokeratotic Poikiloderma, Weary Type
ORPHANET:2908	Kindler Syndrome
ORPHANET:290	Congenital Rubella Syndrome
ORPHANET:291	Fetal Varicella Syndrome
ORPHANET:29207	Reactive Arthritis
ORPHANET:2921	Preaxial Polydactyly - Colobomata - Intellectual Disability
ORPHANET:2928	Polyneuropathy - Intellectual Disability - Acromicria - Premature Menopause
ORPHANET:293355	Methylmalonic Acidemia Without Homocystinuria
ORPHANET:293	Congenital Herpes Virus Infection
ORPHANET:2940	Porencephaly
ORPHANET:294	Fetal Cytomegalovirus Syndrome
ORPHANET:2953	Ehlers-Danlos Syndrome, Musculocontractural Type
ORPHANET:2956	Prata-Liberal-Goncalves Syndrome
ORPHANET:295	Fetal Parvovirus Syndrome
ORPHANET:2962	De Barsy Syndrome
ORPHANET:2968	Leukocyte Adhesion Deficiency
ORPHANET:2973	46,Xx Disorder Of Sex Development - Anorectal Anomalies
ORPHANET:2978	Chronic Intestinal Pseudoobstruction
ORPHANET:29822	Spontaneous Periodic Hypothermia
ORPHANET:2995	Baraitser-Winter Syndrome
ORPHANET:3004	Mirror Polydactyly - Vertebral Segmentation - Limbs Defects
ORPHANET:300605	Juvenile Amyotrophic Lateral Sclerosis
ORPHANET:302	Epidermodysplasia Verruciformis
ORPHANET:303	Dystrophic Epidermolysis Bullosa
ORPHANET:3043	Intellectual Disability - Unusual Facies
ORPHANET:3046	Intellectual Disability-Unusual Facies, Davis-Lafer Type
ORPHANET:304	Epidermolysis Bullosa Simplex
ORPHANET:3050	Intellectual Disability - Hypotonia - Skin Hyperpigmentation
ORPHANET:3055	Intellectual Disability, X-Linked - Short Stature - Obesity
ORPHANET:3057	Monoamine Oxidase A Deficiency
ORPHANET:305	Junctional Epidermolysis Bullosa
ORPHANET:3067	Intellectual Disability - Microcephaly - Phalangeal - Facial Abnormalities
ORPHANET:306	Benign Familial Infantile Seizures
ORPHANET:3074	Intellectual Disability - Short Stature - Hypertelorism
ORPHANET:3082	Intellectual Disability - Polydactyly - Uncombable Hair
ORPHANET:3090	Congenital Pulmonary Venous Return Anomaly
ORPHANET:30925	Hereditary Central Diabetes Insipidus
ORPHANET:3095	Atypical Rett Syndrome
ORPHANET:3103	Roberts Syndrome
ORPHANET:3105	Robinow-Like Syndrome
ORPHANET:3109	Mayer-Rokitansky-Kster-Hauser Syndrome
ORPHANET:31142	Oral Erosive Lichen
ORPHANET:312	Epidermolytic Ichthyosis
ORPHANET:3137	Alpha-N-Acetylgalactosaminidase Deficiency
ORPHANET:313	Lamellar Ichthyosis
ORPHANET:314911	Severe Canavan Disease
ORPHANET:314918	Mild Canavan Disease
ORPHANET:314	Erythroderma Desquamativum
ORPHANET:3151	Multiple Sclerosis - Ichthyosis - Factor Viii Deficiency
ORPHANET:3152	Sclerosteosis
ORPHANET:3156	Senior-Loken Syndrome
ORPHANET:315	Erythrokeratoderma "En Cocardes
ORPHANET:3162	Szary Syndrome
ORPHANET:3167	Siegler-Brewer-Carey Syndrome
ORPHANET:3173	Infantile Spasms - Broad Thumbs
ORPHANET:3176	Spina Bifida - Hypospadias
ORPHANET:3188	Congenital Pulmonary Veins Atresia Or Stenosis
ORPHANET:319213	Lujo Hemorrhagic Fever
ORPHANET:319218	Ebola Hemorrhagic Fever
ORPHANET:319251	Rift Valley Fever
ORPHANET:3195	Sternal Malformation - Vascular Dysplasia
ORPHANET:3196	Steroid Dehydrogenase Deficiency - Dental Anomalies
ORPHANET:3197	Hereditary Hyperekplexia
ORPHANET:3200	Stoll-Alembik-Finck Syndrome
ORPHANET:3207	White Matter Hypoplasia - Corpus Callosum Agenesis - Intellectual Disability
ORPHANET:3215	Deafness - White Hair - Contractures - Papillomas
ORPHANET:321	Multiple Osteochondromas
ORPHANET:3221	Generalized Resistance To Thyroid Hormone
ORPHANET:3224	Deafness - Genital Anomalies - Metacarpal And Metatarsal Synostosis
ORPHANET:3225	Hearing Loss - Familial Salivary Gland Insensitivity To Aldosterone
ORPHANET:3231	Deafness - Onychodystrophy
ORPHANET:3237	Multiple Synostoses Syndrome
ORPHANET:3240	Central Nervous System Calcification - Deafness - Tubular Acidosis - Anemia
ORPHANET:3250	Proximal Symphalangism
ORPHANET:3262	Syngnathia Multiple Anomalies
ORPHANET:3265	Humero-Radial Synostosis
ORPHANET:3266	Humero-Radio-Ulnar Synostosis
ORPHANET:3283	His Bundle Tachycardia
ORPHANET:3286	Catecholaminergic Polymorphic Ventricular Tachycardia
ORPHANET:3293	Telecanthus - Hypertelorism - Strabismus - Pes Cavus
ORPHANET:32	Glutathione Synthetase Deficiency
ORPHANET:3305	Tetraploidy
ORPHANET:33110	Autosomal Agammaglobulinemia
ORPHANET:33111	Granulomatous Slack Skin
ORPHANET:3312	Thalidomide Embryopathy
ORPHANET:3316	Thomas Syndrome
ORPHANET:3317	Thoracolaryngopelvic Dysplasia
ORPHANET:3318	Essential Thrombocythemia
ORPHANET:33208	Idiopathic Hypersomnia
ORPHANET:33226	Waldenstrm Macroglobulinemia
ORPHANET:3323	Thrombocytopenia - Robin Sequence
ORPHANET:3329	Tibial Aplasia - Ectrodactyly
ORPHANET:33314	Jessner'S Lymphocytic Infiltration Of The Skin
ORPHANET:3331	Bowed Tibiae  - Radial Anomalies - Osteopenia - Fractures
ORPHANET:3336	Tom-Brunet-Fardeau Syndrome
ORPHANET:33408	Bullous Lichen Planus
ORPHANET:3346	Tracheal Agenesis
ORPHANET:3353	Trichodermodysplasia - Dental Alterations
ORPHANET:33577	Nodular Non-Suppurative Panniculitis
ORPHANET:3357	Tricho-Odonto-Onychodysplasia - Dominant Syndactyly
ORPHANET:3360	Trichodermal Syndrome - Intellectual Disability
ORPHANET:3365	Trigonocephaly - Broad Thumbs
ORPHANET:3366	Isolated Trigonocephaly
ORPHANET:3374	Triopia
ORPHANET:3375	Trisomy X
ORPHANET:3376	Triploidy
ORPHANET:3378	Trisomy 13
ORPHANET:3380	Trisomy 18
ORPHANET:338	Familial Multiple Fibrofolliculoma
ORPHANET:3398	Thymic Epithelial Neoplasm
ORPHANET:3405	Umbilical Cord Ulceration - Intestinal Atresia
ORPHANET:340	Hemorrhagic Fever - Renal Syndrome
ORPHANET:3412	Vacterl With Hydrocephalus
ORPHANET:3416	Hyperostosis Corticalis Generalisata
ORPHANET:3419	Van Regemorter-Pierquin-Vamos Syndrome
ORPHANET:341	Viral Hemorrhagic Fever
ORPHANET:342	Familial Mediterranean Fever
ORPHANET:3433	Microcephaly - Brachydactyly - Kyphoscoliosis
ORPHANET:3437	Vogt-Koyanagi-Harada Disease
ORPHANET:3440	Waardenburg Syndrome
ORPHANET:3448	Weaver-Williams Syndrome
ORPHANET:3449	Weill-Marchesani Syndrome
ORPHANET:3452	Whipple Disease
ORPHANET:3460	Torg-Winchester Syndrome
ORPHANET:3463	Wolfram Syndrome
ORPHANET:346	Quinquaud'S Folliculitis Decalvans
ORPHANET:35069	Infantile Neuroaxonal Dystrophy
ORPHANET:35093	Isolated Scaphocephaly
ORPHANET:35099	Isolated Brachycephaly
ORPHANET:352723	Attenuated Chdiak-Higashi Syndrome
ORPHANET:352	Galactosemia
ORPHANET:354	Gm1 Gangliosidosis
ORPHANET:355	Gaucher Disease
ORPHANET:35612	Nanophthalmia
ORPHANET:35687	Erdheim-Chester Disease
ORPHANET:357154	Oral Submucous Fibrosis
ORPHANET:36204	Intestinal Lymphangiectasia
ORPHANET:36237	Bullous Impetigo
ORPHANET:36412	Hypocomplementemic Urticarial Vasculitis
ORPHANET:364	Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
ORPHANET:367	Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
ORPHANET:370	Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
ORPHANET:37748	Schnitzler Syndrome
ORPHANET:379	Chronic Granulomatous Disease
ORPHANET:381	Griscelli Disease
ORPHANET:388	Hirschsprung Disease
ORPHANET:391	Hodgkin Lymphoma, Classical
ORPHANET:393	46,Xx Testicular Disorder Of Sex Development
ORPHANET:39	Acromelanosis
ORPHANET:416	Primary Hyperoxaluria
ORPHANET:418	Congenital Adrenal Hyperplasia
ORPHANET:42642	Marshall Syndrome With Periodic Fever
ORPHANET:428	Autosomal Dominant Hypocalcemia
ORPHANET:436	Hypophosphatasia
ORPHANET:440	Familial Hypospadias
ORPHANET:442	Congenital Hypothyroidism
ORPHANET:444	Marie Unna Hereditary Hypotrichosis
ORPHANET:44	Neonatal Adrenoleukodystrophy
ORPHANET:454	Acquired Ichthyosis
ORPHANET:461	Recessive X-Linked Ichthyosis
ORPHANET:46485	Superficial Pemphigus
ORPHANET:46487	Acquired Epidermolysis Bullosa
ORPHANET:46488	Linear Iga Dermatosis
ORPHANET:46489	Bullous Systemic Lupus Erythematosus
ORPHANET:46532	Hereditary Persistence Of Fetal Hemoglobin - Beta-Thalassemia
ORPHANET:474	Jeune Syndrome
ORPHANET:475	Joubert Syndrome
ORPHANET:477	Kid Syndrome
ORPHANET:478	Kallmann Syndrome
ORPHANET:47	X-Linked Agammaglobulinemia
ORPHANET:48104	Pyoderma Gangrenosum
ORPHANET:48372	Nodular Regenerative Hyperplasia Of The Liver
ORPHANET:48377	Subcorneal Pustular Dermatosis
ORPHANET:48686	Primary Effusion Lymphoma
ORPHANET:487	Krabbe Disease
ORPHANET:492	Proliferating Trichilemmal Cyst
ORPHANET:493	Familial Keratoacanthoma
ORPHANET:49804	Lichen Amyloidosis
ORPHANET:498	Keratosis Pilaris Atrophicans
ORPHANET:499	Kerion Celsi
ORPHANET:500	Leopard Syndrome
ORPHANET:505	Graham Little-Piccardi-Lassueur Syndrome
ORPHANET:506	Leigh Syndrome
ORPHANET:50810	Microlissencephaly - Micromelia
ORPHANET:50812	Zellweger-Like Syndrome Without Peroxisomal Anomalies
ORPHANET:50817	Duane Anomaly - Myopathy - Scoliosis
ORPHANET:50942	Keratosis Palmoplantaris Striata
ORPHANET:510	Lesch-Nyhan Syndrome
ORPHANET:511	Maple Syrup Urine Disease
ORPHANET:512	Metachromatic Leukodystrophy
ORPHANET:51	Aicardi-Goutires Syndrome
ORPHANET:52416	Mantle Cell Lymphoma
ORPHANET:52417	Malt Lymphoma
ORPHANET:52429	Branchio-Otic Syndrome
ORPHANET:524	Li-Fraumeni Syndrome
ORPHANET:525	Lichen Planopilaris
ORPHANET:528	Berardinelli-Seip Congenital Lipodystrophy
ORPHANET:529	Roch-Leri Mesosomatous Lipomatosis
ORPHANET:52	Alagille Syndrome
ORPHANET:535	Cutaneous Lupus Erythematosus
ORPHANET:53715	Tumoral Calcinosis
ORPHANET:53719	Wyburn-Mason Syndrome
ORPHANET:53721	Cobb Syndrome
ORPHANET:537	Lyell Syndrome
ORPHANET:549	Legionellosis
ORPHANET:553	Cushing Syndrome
ORPHANET:55654	Hypotrichosis Simplex
ORPHANET:556	Malakoplakia
ORPHANET:558	Marfan Syndrome
ORPHANET:55	Oculocutaneous Albinism
ORPHANET:56044	Carcinoma Of The Gallbladder
ORPHANET:56425	Cold Agglutinin Disease
ORPHANET:564	Meckel Syndrome
ORPHANET:567	22q11.2 Deletion Syndrome
ORPHANET:568	Microphthalmia, Lenz Type
ORPHANET:569	Familial Or Sporadic Hemiplegic Migraine
ORPHANET:57782	Mazabraud Syndrome
ORPHANET:577	Mucolipidosis Type 3
ORPHANET:579	Mucopolysaccharidosis Type 1
ORPHANET:581	Mucopolysaccharidosis Type 3
ORPHANET:582	Mucopolysaccharidosis Type 4
ORPHANET:588	Muscle-Eye-Brain Disease
ORPHANET:592	Macrophagic Myofasciitis
ORPHANET:59305	Gestational Trophoblastic Neoplasm
ORPHANET:59315	Rhombencephalosynapsis
ORPHANET:598	Multiminicore Myopathy
ORPHANET:60030	Loeys-Dietz Syndrome
ORPHANET:611	Inclusion Body Myositis
ORPHANET:614	Thomsen And Becker Disease
ORPHANET:617	Congenital Primary Megaureter
ORPHANET:618	Familial Melanoma
ORPHANET:622	Homocystinuria Without Methylmalonic Aciduria
ORPHANET:631	Non-Acquired Isolated Growth Hormone Deficiency
ORPHANET:63259	Iniencephaly
ORPHANET:63260	Craniorachischisis
ORPHANET:63275	Pemphigoid Gestationis
ORPHANET:63455	Paraneoplastic Pemphigus
ORPHANET:635	Neuroblastoma
ORPHANET:636	Neurofibromatosis Type 1
ORPHANET:63862	Schisis Association
ORPHANET:63	Alport Syndrome
ORPHANET:646	Niemann-Pick Disease Type C
ORPHANET:64741	Pulmonary Blastoma
ORPHANET:64754	Nevus Comedonicus Syndrome
ORPHANET:648	Noonan Syndrome
ORPHANET:650	Lcat Deficiency
ORPHANET:653	Multiple Endocrine Neoplasia Type 2
ORPHANET:654	Nephroblastoma
ORPHANET:655	Autosomal Recessive Medullary Cystic Kidney Disease
ORPHANET:65682	Benign Recurrent Intrahepatic Cholestasis
ORPHANET:65	Leber Congenital Amaurosis
ORPHANET:660	Omphalocele
ORPHANET:665	Albright Hereditary Osteodystrophy
ORPHANET:66633	Sensorineural Hearing Loss - Early Graying - Essential Tremor
ORPHANET:66646	Cutaneous Mastocytosis
ORPHANET:66661	Mast Cell Sarcoma
ORPHANET:666	Osteogenesis Imperfecta
ORPHANET:667	Autosomal Recessive Malignant Osteopetrosis
ORPHANET:669	Otopalatodigital Syndrome
ORPHANET:671	Primary Cutis Verticis Gyrata
ORPHANET:685	Hereditary Spastic Paraplegia
ORPHANET:69061	Idiopathic Steroid-Sensitive Nephrotic Syndrome
ORPHANET:69063	Congenital Membranous Nephropathy Due To Maternal Anti-Neutral Endopeptidase Alloimmunization
ORPHANET:69077	Rhabdoid Tumor
ORPHANET:6	Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency
ORPHANET:700	Alopecia Totalis
ORPHANET:701	Alopecia Universalis
ORPHANET:702	Pelizaeus-Merzbacher Disease
ORPHANET:703	Bullous Pemphigoid
ORPHANET:70	Proximal Spinal Muscular Atrophy
ORPHANET:71267	Dentinogenesis Imperfecta - Short Stature - Hearing Loss - Intellectual Disability
ORPHANET:71270	Auriculoocular Anomalies - Cleft Lip
ORPHANET:71276	Silent Sinus Syndrome
ORPHANET:71493	Familial Thrombocytosis
ORPHANET:71519	Psychogenic Movement Disorders
ORPHANET:720	Pili Bifurcati
ORPHANET:721	Gray Platelet Syndrome
ORPHANET:724	Idiopathic Acute Eosinophilic Pneumonia
ORPHANET:727	Microscopic Polyangiitis
ORPHANET:728	Relapsing Polychondritis
ORPHANET:73246	Visceral Neuropathy - Brain Anomalies - Facial Dysmorphism - Developmental Delay
ORPHANET:736	Palmoplantar Porokeratosis Of Mantoux
ORPHANET:743	Hereditary Thrombophilia Due To Congenital Protein S Deficiency
ORPHANET:745	Hereditary Thrombophilia Due To Congenital Protein C Deficiency
ORPHANET:75378	Oligocone Trichromacy
ORPHANET:75389	Brain Malformation - Congenital Heart Disease - Postaxial Polydactyly
ORPHANET:75496	Ehlers-Danlos Syndrome, Progeroid Type
ORPHANET:754	Androgen Insensitivity Syndrome
ORPHANET:757	Pseudohypoaldosteronism Type 2
ORPHANET:758	Pseudoxanthoma Elasticum
ORPHANET:761	Immunoglobulin A Vasculitis
ORPHANET:764	Pyomyositis
ORPHANET:765	Pyruvate Dehydrogenase Deficiency
ORPHANET:768	Familial Long Qt Syndrome
ORPHANET:770	Rabies
ORPHANET:77258	Trichorhinophalangeal Syndrome Type 1 And 3
ORPHANET:772	Infantile Refsum Disease
ORPHANET:77301	Monosomy 9q22.3
ORPHANET:773	Refsum Disease
ORPHANET:774	Hereditary Hemorrhagic Telangiectasia
ORPHANET:775	Intellectual Disability, X-Linked, Martinez Type
ORPHANET:776	X-Linked Intellectual Disability With Marfanoid Habitus
ORPHANET:777	X-Linked Non-Syndromic Intellectual Disability
ORPHANET:77	Aniridia
ORPHANET:782	Axenfeld-Rieger Syndrome
ORPHANET:783	Rubinstein-Taybi Syndrome
ORPHANET:79085	Familial Partial Lipodystrophy Due To Akt2 Mutations
ORPHANET:79095	Congenital Bile Acid Synthesis Defect Type 4
ORPHANET:79129	Trichodysplasia - Amelogenesis Imperfecta
ORPHANET:79132	Sparse Hair - Short Stature - Skin Anomalies
ORPHANET:79133	Focal Facial Dermal Dysplasia Type I
ORPHANET:79152	Disseminated Superficial Actinic Porokeratosis
ORPHANET:791	Retinitis Pigmentosa
ORPHANET:79230	Hemochromatosis Type 2
ORPHANET:79254	Classical Phenylketonuria
ORPHANET:79262	Adult Neuronal Ceroid Lipofuscinosis
ORPHANET:79263	Infantile Neuronal Ceroid Lipofuscinosis
ORPHANET:79264	Juvenile Neuronal Ceroid Lipofuscinosis
ORPHANET:79278	Erythropoietic Protoporphyria
ORPHANET:79394	Congenital Non-Bullous Ichthyosiform Erythroderma
ORPHANET:793	Sapho Syndrome
ORPHANET:79406	Late-Onset Junctional Epidermolysis Bullosa
ORPHANET:79430	Hermansky-Pudlak Syndrome
ORPHANET:79455	Cutaneous Mastocytoma
ORPHANET:79456	Diffuse Cutaneous Mastocytosis
ORPHANET:79458	Oley Syndrome
ORPHANET:79480	Pemphigus Erythematosus
ORPHANET:79481	Pemphigus Foliaceus
ORPHANET:79492	Pili Gemini
ORPHANET:79501	Punctate Palmoplantar Keratoderma Type 1
ORPHANET:801	Scleroderma
ORPHANET:805	Tuberous Sclerosis
ORPHANET:808	Seckel Syndrome
ORPHANET:809	Mixed Connective Tissue Disease
ORPHANET:813	Silver-Russell Syndrome
ORPHANET:817	Peeling Skin Syndrome
ORPHANET:81	Antisynthetase Syndrome
ORPHANET:821	Sotos Syndrome
ORPHANET:823	Isolated Spina Bifida
ORPHANET:828	Stickler Syndrome
ORPHANET:829	Adult Still'S Disease
ORPHANET:830	Stuccokeratosis
ORPHANET:83317	Scrub Typhus
ORPHANET:833	Encephalopathy Due To Sulfite Oxidase Deficiency
ORPHANET:83465	Narcolepsy Without Cataplexy
ORPHANET:83469	Desmoplastic Small Round Cell Tumor
ORPHANET:834	Free Sialic Acid Storage Disease
ORPHANET:83619	Macrostomia - Preauricular Tags - External Ophthalmoplegia
ORPHANET:83628	Pelvis Syndrome
ORPHANET:84085	Hinman Syndrome
ORPHANET:84090	Fibronectin Glomerulopathy
ORPHANET:840	Syringocystadenoma Papilliferum
ORPHANET:84	Fanconi Anemia
ORPHANET:85162	Facial Onset Sensory And Motor Neuronopathy
ORPHANET:85168	Craniofacial Conodysplasia
ORPHANET:85172	Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
ORPHANET:85175	Astley-Kendall Dysplasia
ORPHANET:85193	Idiopathic Juvenile Osteoporosis
ORPHANET:85198	Dysspondyloenchondromatosis
ORPHANET:85317	Intellectual Disability, X-Linked - Hypogammaglobulinemia - Progressive Neurological Deterioration
ORPHANET:85318	Intellectual Disability, X-Linked - Precocious Puberty - Obesity
ORPHANET:85320	Intellectual Disability, X-Linked - Macrocephaly - Macro-Orchidism
ORPHANET:85322	Intellectual Disability, X-Linked, Pai Type
ORPHANET:85325	Intellectual Disability, X-Linked, Stevenson Type
ORPHANET:85329	Intellectual Disability, X-Linked - Hypotonia - Facial Dysmorphism - Aggressive Behavior
ORPHANET:85330	X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
ORPHANET:85331	Intellectual Disability, X-Linked - Hypogonadism - Ichthyosis - Obesity - Short Stature
ORPHANET:85334	X-Linked Neurodegenerative Syndrome, Bertini Type
ORPHANET:85336	X-Linked Neurodegenerative Syndrome, Hamel Type
ORPHANET:85337	Intellectual Disability, X-Linked, Zorick Type
ORPHANET:85338	X-Linked Intellectual Disability - Ataxia - Apraxia
ORPHANET:85408	Juvenile Rheumatoid Factor-Negative Polyarthritis
ORPHANET:85410	Oligoarticular Juvenile Arthritis
ORPHANET:85435	Juvenile Rheumatoid Factor-Positive Polyarthritis
ORPHANET:85438	Enthesitis-Related Arthritis
ORPHANET:858	Congenital Toxoplasmosis
ORPHANET:861	Treacher-Collins Syndrome
ORPHANET:867	Familial Multiple Trichoepithelioma
ORPHANET:86814	Benign Adult Familial Myoclonic Epilepsy
ORPHANET:86893	Nodular Lymphocyte Predominant Hodgkin Lymphoma
ORPHANET:86918	Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
ORPHANET:869	Triple A Syndrome
ORPHANET:871	Familial Progressive Cardiac Conduction Defect
ORPHANET:87876	Sialidosis Type 2
ORPHANET:881	Turner Syndrome
ORPHANET:88635	Myopathy Due To Calsequestrin And Serca1 Protein Overload
ORPHANET:88637	Hypomyelination - Hypogonadotropic Hypogonadism - Hypodontia
ORPHANET:88643	Obesity - Colitis - Hypothyroidism - Cardiac Hypertrophy - Developmental Delay
ORPHANET:886	Usher Syndrome
ORPHANET:888	Van Der Woude Syndrome
ORPHANET:889	Cutaneous Leukocytoclastic Angiitis
ORPHANET:893	Wagr Syndrome
ORPHANET:895	Waardenburg Syndrome Type 2
ORPHANET:897	Waardenburg-Shah Syndrome
ORPHANET:89838	Autosomal Recessive Epidermolysis Bullosa Simplex
ORPHANET:89841	Centripetalis Recessive Dystrophic Epidermolysis Bullosa
ORPHANET:89842	Recessive Dystrophic Epidermolysis Bullosa-Generalized Other
ORPHANET:899	Walker-Warburg Syndrome
ORPHANET:90000	Erythema Elevatum Diutinum
ORPHANET:90033	Autoimmune Hemolytic Anemia, Warm Type
ORPHANET:90035	Paroxysmal Cold Hemoglobinuria
ORPHANET:90036	Mixed-Type Autoimmune Hemolytic Anemia
ORPHANET:90037	Drug-Induced Autoimmune Hemolytic Anemia
ORPHANET:901	Wells Syndrome
ORPHANET:90289	Localized Scleroderma
ORPHANET:90348	Autosomal Dominant Cutis Laxa
ORPHANET:90349	Autosomal Recessive Cutis Laxa Type 1
ORPHANET:90350	Autosomal Recessive Cutis Laxa Type 2
ORPHANET:90354	Brittle Cornea Syndrome
ORPHANET:90363	Secondary Intestinal Lymphangiectasia
ORPHANET:903	Von Willebrand Disease
ORPHANET:90653	Stickler Syndrome Type 1
ORPHANET:906	Wiskott-Aldrich Syndrome
ORPHANET:910	Xeroderma Pigmentosum
ORPHANET:91133	Osteopenia - Myopia - Hearing Loss - Intellectual Disability - Facial Dysmorphism
ORPHANET:912	Zellweger Syndrome
ORPHANET:91378	Hereditary Angioedema
ORPHANET:91546	Lyme Disease
ORPHANET:915	Aarskog-Scott Syndrome
ORPHANET:93160	Hypocalcemic Vitamin D-Resistant Rickets
ORPHANET:93258	Pfeiffer Syndrome Type 1
ORPHANET:93259	Pfeiffer Syndrome Type 2
ORPHANET:93260	Pfeiffer Syndrome Type 3
ORPHANET:93271	Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
ORPHANET:93274	Thanatophoric Dysplasia Type 2
ORPHANET:93284	Spondyloepiphyseal Dysplasia Tarda
ORPHANET:932	Achondrogenesis
ORPHANET:93387	Brachydactyly Type E
ORPHANET:93388	Brachydactyly Type A1
ORPHANET:93389	Brachydactyly Type A5
ORPHANET:93402	Syndactyly Type 1
ORPHANET:93403	Syndactyly Type 2
ORPHANET:93672	Juvenile Dermatomyositis
ORPHANET:93928	Epispadias
ORPHANET:93946	Hamel Cerebro-Palato-Cardiac Syndrome
ORPHANET:93947	X-Linked Intellectual Disability, Golabi-Ito-Hall Type
ORPHANET:94063	12q14 Microdeletion Syndrome
ORPHANET:94066	Severe Intellectual Disability - Epilepsy - Anal Anomalies - Distal Phalangeal Hypoplasia
ORPHANET:945	Acalvaria
ORPHANET:950	Acrodysostosis
ORPHANET:95429	Angioma Serpiginosum
ORPHANET:95496	Pituitary Stalk Interruption Syndrome
ORPHANET:95501	Congenital Central Diabetes Insipidus
ORPHANET:955	Acroosteolysis Dominant Type
ORPHANET:95626	Acquired Central Diabetes Insipidus
ORPHANET:956	Acro-Pectoro-Renal Dysplasia
ORPHANET:95712	Thyroid Ectopia
ORPHANET:95713	Athyreosis
ORPHANET:95715	Congenital Hypothyroidism Due To Transplacental Passage Of Maternal Tsh-Binding Inhibitory Antibodies
ORPHANET:95716	Familial Thyroid Dyshormonogenesis
ORPHANET:95717	Idiopathic Congenital Hypothyroidism
ORPHANET:95720	Thyroid Hypoplasia
ORPHANET:96061	Mosaic Trisomy 8
ORPHANET:96129	Distal Monosomy 19p13.3
ORPHANET:96147	Kleefstra Syndrome Due To 9q34 Microdeletion
ORPHANET:96263	48,Xxxy Syndrome
ORPHANET:96264	49,Xxxxy Syndrome
ORPHANET:970	Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHANET:971	Acrorenal Syndrome
ORPHANET:97229	Riboflavin Transporter Deficiency
ORPHANET:97330	Thoracic Outlet Syndrome
ORPHANET:97332	Kienbock Disease
ORPHANET:974	Adams-Oliver Syndrome
ORPHANET:97927	Peripheral Resistance To Thyroid Hormones
ORPHANET:98848	Indolent Systemic Mastocytosis
ORPHANET:98849	Systemic Mastocytosis With An Associated Clonal Hematologic Non-Mast Cell Lineage Disease
ORPHANET:98850	Aggressive Systemic Mastocytosis
ORPHANET:98941	Von Hippel Anomaly
ORPHANET:99429	Complete Androgen Insensitivity Syndrome
ORPHANET:994	Fetal Akinesia Deformation Sequence
ORPHANET:99745	Typhoid
ORPHANET:99748	Pontiac Fever
ORPHANET:99776	Mosaic Trisomy 9
ORPHANET:99798	Oligodontia
ORPHANET:99824	Lassa Fever
ORPHANET:99825	Nipah Virus Disease
ORPHANET:99826	Marburg Hemorrhagic Fever
ORPHANET:99827	Crimean-Congo Hemorrhagic Fever
ORPHANET:99829	Yellow Fever
ORPHANET:99832	Resistance To Thyrotropin-Releasing Hormone Syndrome
ORPHANET:99868	Thymic Carcinoma
ORPHANET:99871	Eosinophilic Granuloma
ORPHANET:99872	Hashimoto-Pritzker Syndrome
ORPHANET:99873	Hand-Schller-Christian Disease
ORPHANET:99874	Adult Pulmonary Langerhans Cell Histiocytosis
ORPHANET:99889	Cushing Syndrome Due To Ectopic Acth Secretion
ORPHANET:99925	Invasive Mole
ORPHANET:99927	Hydatidiform Mole
ORPHANET:99928	Placental Site Trophoblastic Tumor
ORPHANET:99965	O'Sullivan-Mcleod Syndrome
ORPHANET:99969	Pleomorphic Liposarcoma
ORPHANET:99971	Well-Differentiated Liposarcoma
ORPHANET:99978	Klatskin Tumor
ORPHANET:9	Tetrasomy X